This document summarizes research on genes related to autism spectrum disorder (ASD). It discusses five genes - mTOR, CNTNAP2, NRXN1, NLGN3, and MET - that are associated with ASD. These genes are involved in brain cell functioning and pathways, especially related to neurons and synapses. The document provides background on brain cells, how synapses work, how neurons connect, and how neuronal pathways can affect those with ASD. It discusses in more detail the neurexin and neuroligin families, which help form bridges between neurons, and are important for ASD research.
A Novel Approach For Detection of Neurological Disorders through Electrical P...IJECEIAES
This paper talks about the phenomenon of recurrence and using this concept it proposes a novel and a very simple and user friendly method to diagnose the neurological disorders by using the EEG signals.The mathematical concept of recurrence forms the basis for the detection of neurological disorders,and the tool used is MATLAB. Using MATLAB, an algorithm is designed which uses EEG signals as the input and uses the synchronizing patterns of EEG signals to determine various neurological disorders through graphs and recurrence plots
1) A peptide called FGL enhances learning and memory in rodents by stimulating the delivery of glutamate receptors to synapses, strengthening synaptic transmission. This effect is mediated through the activation of protein kinase C.
2) FGL treatment heightens the induction of long-term potentiation in response to synaptic activity, improving the encoding of information.
3) FGL is poised to begin clinical trials this year for Alzheimer's disease, as prior studies show it improves memory and reduces neuropathology in rodent models of AD.
Abstract In the mammalian neocortex, excitatory neurons provide excitation in both columnar and laminar dimensions, which is modulated further by inhibitory neurons. However, our understanding of intracortical excitatory and inhibitory synaptic inputs in relation to principal excitatory neurons remains incomplete, and it is unclear how local excitatory and inhibitory synaptic connections to excitatory neurons are spatially organized on a layer-by-layer basis. In the present study, we combined whole cell recordings with laser scanning photostimulation via glutamate uncaging to map excitatory and inhibitory synaptic inputs to single excitatory neurons throughout cortical layers 2/3–6 in the mouse primary visual cortex (V1). We find that synaptic input sources of excitatory neurons span the radial columns of laminar microcircuits, and excitatory neurons in different V1 laminae exhibit distinct patterns of layer-specific organizationofexcitatoryinputs.Remarkably,thespatialextentofinhibitoryinputsofexcitatory neurons for a given layer closely mirrors that of their excitatory input sources, indicating that excitatory and inhibitory synaptic connectivity is spatially balanced across excitatory neuronal networks. Strong interlaminar inhibitory inputs are found, particularly for excitatory neurons in layers 2/3 and 5. This differs from earlier studies reporting that inhibitory cortical connections to excitatory neurons are generally localized within the same cortical layer. On the basis of the functional mapping assays, we conducted a quantitative assessment of both excitatory and inhibitory synaptic laminar connections to excitatory cells at single cell resolution, establishing precise layer-by-layer synaptic wiring diagrams of excitatory neurons in the visual cortex.
Detail The Components Of A Synapse And Describe The...Jennifer Perry
Synapses allow neurons to communicate by transmitting chemical and electrical signals. They connect the axon of one neuron to the dendrites of other neurons. The brain contains around 100 billion neurons, each with around 7,000 synaptic connections. This vast network of interconnecting neurons underlies all of our cognitive functions and behaviors. At the microscopic level, a synapse contains release sites on the presynaptic axon terminal and receptor sites on the postsynaptic dendrite, separated by a narrow gap called the synaptic cleft. Neurotransmitters are released from vesicles in the presynaptic terminal and diffuse across the cleft to bind receptors, transmitting the signal to the next neuron.
The field of neuroscience is undergoing significant change. The two main cell families that make up the brain, neurons and glial cells, each concealed a hybrid brain cell that fell somewhere in the middle.
Short Answer Assessment 2XXXXXXNURS 6630 PsychopMoseStaton39
Short Answer Assessment 2
XXXXXX
NURS 6630: Psychopharmalogical Approaches to Treat Psychopathology
XXXXXXXXX
Assignment: Short Answer Assessment
XXXXX
Short Answer Assessment
1. Axon consists of elongated fibers that extend from the cell body to the terminal endings and aids in transmitting signals. Some axons have a fatty substance called myelin, which acts as an insulator and can transmit signals much faster than other neurons. Axon elongated fibers connect with other cells in the body through the synapses (Stern, Fava, Wilens, & Rosenbaum, 2016)
2.The major components that make up the subcortical structures include the cerebellum, basal ganglia, and the thalamus, hypothalamus, pituitary, and brainstem.
The frontal lobe is involved in functions such as planning, attention, problem-solving, judgment, and initiative. The following components play a role in learning, memory, and addiction.
The cerebellum is responsible for motor coordination and learning. The ventral striatum plays a vital role in emotion and learning via connections with the hippocampus, amygdala, and prefrontal cortex.
The two critical neurotransmitters located in the nigra striatal region of the brain that plays a significant role in motor control is Dopamine and GABAergic neurons (Sonne, 2020)
3.Glia cells are non-neuronal cells in the central nervous system and do not produce electrical impulses. Glia cells maintain homeostasis, form myelin, and provide support and protection for neurons. Glia cells are divided into two groups, microglia cells and macroglia cells; Macroglia cells can be further divided into astrocytes and oligodendrocytes. Microglia cells act as a primary immune defense of the central nervous system, travel and remove damaged substances, pathogens, or other foreign substances. Glia cells also play a role in neurotransmission and synaptic connections and the physiological processes of breathing. Astrocytes are star-shaped glia cells with many functions, including providing nutrient support to the neurons, helping repair damaged nervous system tissue, regulating communication between neurons, and maintaining blood-brain barriers. Oligodendrocytes are responsible for axonal regulation and the generation and maintenance of the myelin sheath that surrounds axons (Hooper & Pocock, 2020)
4. A neuron, referred to as the pre-synaptic cell, releases a neurotransmitter or other neurochemical from special pouches clustered near the cell membrane called synaptic vesicles into space between cells. Those molecules will then be taken up by membrane receptors on the post-synaptic or neighboring, cell hence changing the cell's behavior. Chemicals from the pre-synaptic neuron may excite the post-synaptic cell, for example, telling it to slow down signaling or stop it altogether. Synapses offer the possibility of bi-directional communication; as such, post-synaptic cells can send back their messages to pre-synaptic cells, telling them to change how much or ...
Courtesy Dr. Julie Gralow1LO 1 Define neuroscience a.docxvanesaburnand
Courtesy Dr. Julie Gralow
1
LO 1 Define neuroscience and explain its contributions to our understanding of behavior.
LO 2 Label the parts of a neuron and describe an action potential.
LO 3 Illustrate how neurons communicate with each other.
LO 4 Summarize various neurotransmitters and the roles they play in human behavior.
LO 5 Recognize the connections between the central and peripheral nervous systems.
Courtesy Dr. Julie Gralow
LO 6 Evaluate pseudopsychology and its relationship to critical thinking.
LO 7 Describe how psychologists use the scientific method.
LO 8 Summarize the importance of a random sample.
LO 9 Recognize the forms of descriptive research.
LO 10 Explain how the experimental method relates to cause and effect.
LO 11 Demonstrate an understanding of research ethics.
Courtesy Dr. Julie Gralow
LO 12 Compare and contrast tools scientists use to study the brain.
LO 13 Identify the lobes of the cortex and explain their functions.
LO 14 Recognize the association areas and identify their functions.
LO 15 Distinguish the structures and functions of the limbic system.
LO 16 Distinguish the structures and functions of the brainstem and cerebellum.
Courtesy Dr. Julie Gralow
Biology and Behavior:
Studying the Last Frontier
Neuroscience
Involves study of the brain and nervous system
Biological psychology
Focuses on how the brain and other biological systems influence human behavior
Contributions
Examination of extent of experience-induced neural plasticity
Courtesy Dr. Julie Gralow
5
Biology and Behavior:
Studying the Last Frontier
Brandon Burns poses for a photo at the Marine Corps Recruit Depot in Parris Island, South Carolina in the fall of 2003. The following year, he was shot in the head by an enemy sniper in the Battle of Fallujah.
Doctors concluded that some parts of his brain were no longer viable. “They removed part of my skull and dug out the injured part of my brain,” and now, Brandon says, “one third of my brain is gone.”
What were the consequences of his injury?
Brandon Burns in the military
Courtesy Dr. Julie Gralow
Neuroscience
Contributions
Biological psychology
6
Courtesy Dr. Julie Gralow
The neuron, the basic building block of the nervous system, has three main components: (1) the cell body, which contains vital cellular structures; (2) bushy dendrites that receive messages from neighboring neurons; and (3) a long, thin axon that sends messages to other neurons through its branchlike terminal buds.
James Cavallini/Photo Researchers, Inc.
7
Can you identify the structure of a typical neuron?
Courtesy Dr. Julie Gralow
Cell body: Region of the neuron that a nucleus containing DNA, protein-producing mechanisms, and other structures that nourish the celi
Dendrites: Tiny, branchlike fibers extending from the cell body that receive messages from other neurons and send information in the direction of the cell body
Axon: Skinny tubelike structure of a neuron that extends from the cell body, and wh.
A Novel Approach For Detection of Neurological Disorders through Electrical P...IJECEIAES
This paper talks about the phenomenon of recurrence and using this concept it proposes a novel and a very simple and user friendly method to diagnose the neurological disorders by using the EEG signals.The mathematical concept of recurrence forms the basis for the detection of neurological disorders,and the tool used is MATLAB. Using MATLAB, an algorithm is designed which uses EEG signals as the input and uses the synchronizing patterns of EEG signals to determine various neurological disorders through graphs and recurrence plots
1) A peptide called FGL enhances learning and memory in rodents by stimulating the delivery of glutamate receptors to synapses, strengthening synaptic transmission. This effect is mediated through the activation of protein kinase C.
2) FGL treatment heightens the induction of long-term potentiation in response to synaptic activity, improving the encoding of information.
3) FGL is poised to begin clinical trials this year for Alzheimer's disease, as prior studies show it improves memory and reduces neuropathology in rodent models of AD.
Abstract In the mammalian neocortex, excitatory neurons provide excitation in both columnar and laminar dimensions, which is modulated further by inhibitory neurons. However, our understanding of intracortical excitatory and inhibitory synaptic inputs in relation to principal excitatory neurons remains incomplete, and it is unclear how local excitatory and inhibitory synaptic connections to excitatory neurons are spatially organized on a layer-by-layer basis. In the present study, we combined whole cell recordings with laser scanning photostimulation via glutamate uncaging to map excitatory and inhibitory synaptic inputs to single excitatory neurons throughout cortical layers 2/3–6 in the mouse primary visual cortex (V1). We find that synaptic input sources of excitatory neurons span the radial columns of laminar microcircuits, and excitatory neurons in different V1 laminae exhibit distinct patterns of layer-specific organizationofexcitatoryinputs.Remarkably,thespatialextentofinhibitoryinputsofexcitatory neurons for a given layer closely mirrors that of their excitatory input sources, indicating that excitatory and inhibitory synaptic connectivity is spatially balanced across excitatory neuronal networks. Strong interlaminar inhibitory inputs are found, particularly for excitatory neurons in layers 2/3 and 5. This differs from earlier studies reporting that inhibitory cortical connections to excitatory neurons are generally localized within the same cortical layer. On the basis of the functional mapping assays, we conducted a quantitative assessment of both excitatory and inhibitory synaptic laminar connections to excitatory cells at single cell resolution, establishing precise layer-by-layer synaptic wiring diagrams of excitatory neurons in the visual cortex.
Detail The Components Of A Synapse And Describe The...Jennifer Perry
Synapses allow neurons to communicate by transmitting chemical and electrical signals. They connect the axon of one neuron to the dendrites of other neurons. The brain contains around 100 billion neurons, each with around 7,000 synaptic connections. This vast network of interconnecting neurons underlies all of our cognitive functions and behaviors. At the microscopic level, a synapse contains release sites on the presynaptic axon terminal and receptor sites on the postsynaptic dendrite, separated by a narrow gap called the synaptic cleft. Neurotransmitters are released from vesicles in the presynaptic terminal and diffuse across the cleft to bind receptors, transmitting the signal to the next neuron.
The field of neuroscience is undergoing significant change. The two main cell families that make up the brain, neurons and glial cells, each concealed a hybrid brain cell that fell somewhere in the middle.
Short Answer Assessment 2XXXXXXNURS 6630 PsychopMoseStaton39
Short Answer Assessment 2
XXXXXX
NURS 6630: Psychopharmalogical Approaches to Treat Psychopathology
XXXXXXXXX
Assignment: Short Answer Assessment
XXXXX
Short Answer Assessment
1. Axon consists of elongated fibers that extend from the cell body to the terminal endings and aids in transmitting signals. Some axons have a fatty substance called myelin, which acts as an insulator and can transmit signals much faster than other neurons. Axon elongated fibers connect with other cells in the body through the synapses (Stern, Fava, Wilens, & Rosenbaum, 2016)
2.The major components that make up the subcortical structures include the cerebellum, basal ganglia, and the thalamus, hypothalamus, pituitary, and brainstem.
The frontal lobe is involved in functions such as planning, attention, problem-solving, judgment, and initiative. The following components play a role in learning, memory, and addiction.
The cerebellum is responsible for motor coordination and learning. The ventral striatum plays a vital role in emotion and learning via connections with the hippocampus, amygdala, and prefrontal cortex.
The two critical neurotransmitters located in the nigra striatal region of the brain that plays a significant role in motor control is Dopamine and GABAergic neurons (Sonne, 2020)
3.Glia cells are non-neuronal cells in the central nervous system and do not produce electrical impulses. Glia cells maintain homeostasis, form myelin, and provide support and protection for neurons. Glia cells are divided into two groups, microglia cells and macroglia cells; Macroglia cells can be further divided into astrocytes and oligodendrocytes. Microglia cells act as a primary immune defense of the central nervous system, travel and remove damaged substances, pathogens, or other foreign substances. Glia cells also play a role in neurotransmission and synaptic connections and the physiological processes of breathing. Astrocytes are star-shaped glia cells with many functions, including providing nutrient support to the neurons, helping repair damaged nervous system tissue, regulating communication between neurons, and maintaining blood-brain barriers. Oligodendrocytes are responsible for axonal regulation and the generation and maintenance of the myelin sheath that surrounds axons (Hooper & Pocock, 2020)
4. A neuron, referred to as the pre-synaptic cell, releases a neurotransmitter or other neurochemical from special pouches clustered near the cell membrane called synaptic vesicles into space between cells. Those molecules will then be taken up by membrane receptors on the post-synaptic or neighboring, cell hence changing the cell's behavior. Chemicals from the pre-synaptic neuron may excite the post-synaptic cell, for example, telling it to slow down signaling or stop it altogether. Synapses offer the possibility of bi-directional communication; as such, post-synaptic cells can send back their messages to pre-synaptic cells, telling them to change how much or ...
Courtesy Dr. Julie Gralow1LO 1 Define neuroscience a.docxvanesaburnand
Courtesy Dr. Julie Gralow
1
LO 1 Define neuroscience and explain its contributions to our understanding of behavior.
LO 2 Label the parts of a neuron and describe an action potential.
LO 3 Illustrate how neurons communicate with each other.
LO 4 Summarize various neurotransmitters and the roles they play in human behavior.
LO 5 Recognize the connections between the central and peripheral nervous systems.
Courtesy Dr. Julie Gralow
LO 6 Evaluate pseudopsychology and its relationship to critical thinking.
LO 7 Describe how psychologists use the scientific method.
LO 8 Summarize the importance of a random sample.
LO 9 Recognize the forms of descriptive research.
LO 10 Explain how the experimental method relates to cause and effect.
LO 11 Demonstrate an understanding of research ethics.
Courtesy Dr. Julie Gralow
LO 12 Compare and contrast tools scientists use to study the brain.
LO 13 Identify the lobes of the cortex and explain their functions.
LO 14 Recognize the association areas and identify their functions.
LO 15 Distinguish the structures and functions of the limbic system.
LO 16 Distinguish the structures and functions of the brainstem and cerebellum.
Courtesy Dr. Julie Gralow
Biology and Behavior:
Studying the Last Frontier
Neuroscience
Involves study of the brain and nervous system
Biological psychology
Focuses on how the brain and other biological systems influence human behavior
Contributions
Examination of extent of experience-induced neural plasticity
Courtesy Dr. Julie Gralow
5
Biology and Behavior:
Studying the Last Frontier
Brandon Burns poses for a photo at the Marine Corps Recruit Depot in Parris Island, South Carolina in the fall of 2003. The following year, he was shot in the head by an enemy sniper in the Battle of Fallujah.
Doctors concluded that some parts of his brain were no longer viable. “They removed part of my skull and dug out the injured part of my brain,” and now, Brandon says, “one third of my brain is gone.”
What were the consequences of his injury?
Brandon Burns in the military
Courtesy Dr. Julie Gralow
Neuroscience
Contributions
Biological psychology
6
Courtesy Dr. Julie Gralow
The neuron, the basic building block of the nervous system, has three main components: (1) the cell body, which contains vital cellular structures; (2) bushy dendrites that receive messages from neighboring neurons; and (3) a long, thin axon that sends messages to other neurons through its branchlike terminal buds.
James Cavallini/Photo Researchers, Inc.
7
Can you identify the structure of a typical neuron?
Courtesy Dr. Julie Gralow
Cell body: Region of the neuron that a nucleus containing DNA, protein-producing mechanisms, and other structures that nourish the celi
Dendrites: Tiny, branchlike fibers extending from the cell body that receive messages from other neurons and send information in the direction of the cell body
Axon: Skinny tubelike structure of a neuron that extends from the cell body, and wh.
Neurons are the basic structural and functional units of the nervous system. They have three main parts - a cell body containing the nucleus, dendrites which receive signals, and an axon which transmits signals. Neurons communicate via electrical and chemical signals across synapses. There are different types of neurons classified by structure and function, including sensory neurons, motor neurons, and interneurons. Neurons are formed through neurogenesis, migrate to their destinations, differentiate, and form neural networks. Diseases can cause neuron death. Key neurotransmitters mediate signaling between neurons.
PAGE Running head SCHIZOPHRENIA 1SchizophreniaVernessa.docxkarlhennesey
PAGE
Running head: SCHIZOPHRENIA
1
Schizophrenia
Vernessa Combs
PSY350: Physiological Psychology
December 10, 2019
Schizophrenia
The topic selected was schizophrenia. This is a severe and chronic mental disorder affecting the way humans think, feel and behave. Although this mental disorder is not very common, it has disabling symptoms.
Schizophrenia has continuously been viewed as a disorder that occurs in neurodevelopment. It is associated with a microdeletion syndrome of a chromosome. Neurons migrate to the pial surface from the brain's ventricular zone. "Migration of the neuron cell body is mediated via microtubule-based transport organized by the centrosome. First, the centrosome moves up the microtubule, followed by the nucleus and the cell body” (Pearlson, 2015). Neuronal migrations are reportedly caused by Reelin.
The etiology of schizophrenia is unknown, however, several risk factors have been associated with its development. These include environmental and genetic factors. Genetic factors are, however, insufficient to account for the development of the disease. They must be accompanied by other factors for the disease to develop. "Because the concordance rate for monozygotic twins only approaches 50%, genetic makeup alone is not sufficient for the development of schizophrenia, and non-genetic or sporadic forms of the disorder must exist” (Miyamoto et al, 2013).
Environmental factors that play an important role in the etiology of schizophrenia include obstetric complications such as hypoxia, preeclampsia, and premature birth. Other environmental factors include maternal viral infections and stress occurring in neurodevelopment. Stress during neurodevelopment may be caused by other factors such as microbial infections.
The pathology of schizophrenia includes the transcriptional dysregulation at the cerebral cortex and chromosomal conformations. “Anatomic, neurotransmitter and immune system abnormalities have been implicated in the pathophysiology of schizophrenia” (Miyamoto et al, 2013). Differences have been observed in the brains of people with schizophrenia compared to the brains of people without the disease in neuroimaging studies. The medial temporal areas of the brain have a decreased volume while the ventricles are larger. Structural abnormalities such as volume reductions and ventricular enlargements have been associated with the disease.
The dopaminergic system abnormalities are also associated with schizophrenia. The immune system is also disturbed in people with the disease. “Overactivation of the immune system (eg, from prenatal infection or postnatal stress) may result in overexpression of inflammatory cytokines and subsequent alteration of brain structure and function” (Nuckols et al, 2013). Anatomic abnormalities may also be observed in the hippocampus.
In the prefrontal cortex, there has been a reported increase in neuronal density. One of the areas of the prefrontal cortex, area 9, has been found to h ...
The document summarizes a study that examined the grey matter of multiple sclerosis patients. The study found an absence of functional peroxisomes in the grey matter of multiple sclerosis patients. Peroxisomes help break down toxins and fatty acids in neural cells. The study used staining, gene expression analysis, and fatty acid quantification to show that multiple sclerosis grey matter has significantly fewer peroxisomes and accumulates more fatty acids compared to normal grey matter. As multiple sclerosis progresses, the levels of a peroxisome membrane protein called PMP70 decrease, indicating fewer peroxisomes over time. This absence of peroxisomes may contribute to multiple sclerosis progression by hindering neural cell function.
IL1RN Gene Variant Shows Promising Protection Against Severe COVID-19 in Men ...The Lifesciences Magazine
The IL1RN gene variant, identified by NYU Grossman School of Medicine researchers, offers significant protection against severe COVID-19 in men under 75
1) C. elegans raised in social environments displayed stronger neural activity, as evidenced by more numerous, intense, and larger synapses compared to C. elegans raised in isolation.
2) Behavioral assays also showed C. elegans from social environments had higher response rates to external stimuli and more thrashes per minute than isolated C. elegans.
3) These results support the hypothesis that more social stimulation leads to increased neural plasticity and synaptic strength in C. elegans.
This document summarizes the structure and components of neurons and nerve cells. It discusses that neurons and glia cells are the two main types of cells in the nervous system. Neurons receive and transmit information, while glia cells provide support functions. The key components of a neuron are dendrites, the cell body, the axon, and presynaptic terminals. Information flows from dendrites to the cell body and down the axon. Neurons communicate via neurotransmitters released at presynaptic terminals. The document also outlines the roles of glia cells like oligodendrocytes and astrocytes in myelination and support of neurons.
Genetic mutagenesis screen in mice to identify genes required for proper axon guidance in dopamine pathways:
1) Generate mutations via chemical mutagen or transposon insertion
2) Screen mutant mice for defects in dopamine axon projections
3) Map location of causal mutation and clone the gene
The screen would allow identification of novel genes critical for axon pathfinding in dopamine pathways. Subsequent analysis including complementation tests and linkage mapping would help characterize the genetic basis of any guidance defects found.
Running head MIDTERM ESSAY EXAMINATIONMIDTERM ESSAY EXAMINATION.docxcharisellington63520
Running head: MIDTERM ESSAY EXAMINATION
MIDTERM ESSAY EXAMINATION 2
Biopsychology: Midterm Essay Examination
Question 1
The nature-nurture debate is far from being settled considering the divergent research opinions. The role of biology (nature) and environment (nurture) in development of behavior or personality has motivated extensive research on the issue. The role of genetics in a person’s behavior is difficult to evaluate considering the nature of heredity. Each human cell contains 23 pairs of chromosomes, which means that there are 46 chromosomes with roughly 20,000 genes. Interaction of genes from each member contributes to a specific trait (Pinel, 2013). Heredity is intricate and difficult to evaluate because the human egg and sperm, which are the products of cell division contain 23 unpaired chromosomes. This implies that half of an individual’s genes come from the father and the other half from the mother. Therefore, every person has a unique genetic profile except for identical twins.
The Human Genome Project, which entailed marking genes in the human DNA made it possible to identify genes that contribute to certain diseases such as Huntington’s disease, cystic fibrosis and some forms of cancers (Pinel, 2013). Although the heritability of some diseases and physical traits have genetic foundations, the genetic foundation of behavior is difficult to determine. Even research studies on the behavior of family members cannot establish conclusive relationships between genes and behavior. This is because it is difficult to isolate behavioral traits that have not been affected by environmental factors. Twin studies have attempted to link genetics and behavior because identical twins tend to share similar behaviors compared to fraternal twins (Pinel, 2013). However, these studies are not conclusive because the environments may be similar and identical twins reared together may develop noticeably unlike behaviors. The implication for the biopsychologits is that both environmental and genetics factors play a role in the development of personality (behaviors). This means that there is no controversy at all despite some scientists disagreeing on the contributions of nature and nurture.
Question 2
Neurotransmission is the process through which neurons communicate at the synapses to realize the overall function of the CNS (Central Nervous System). In order to realize long distant communication, neurons possess unique abilities of transmitting electrical signal through axons. Neurons derive input from adjacent neurons through neurotransmitters. The movement of the signal in the neuron is facilitated by the voltage-gated ions channels that cause a short reversal of resting membrane potential l to generate an action potential (Freberg, 2010). The generation of an action potential involves five steps. First, stimuli from adjacent neurons or from sensory c.
The document discusses the evolution of nervous systems in invertebrates and vertebrates. It describes how invertebrates like sponges, cnidarians, flatworms, and mollusks have a ganglionic nervous system with nerve cords and ganglia. Vertebrates evolved a cerebrospinal nervous system with a centralized brain and spinal cord. The cerebrospinal system allows for more complex processing and specialized functions in different brain regions. Comparing nervous system organization across species provides insights into neurodegenerative diseases and potential new treatment strategies.
This pdf is about the Neuron, Glia cells & Neurotransmitters.
For more details visit on YouTube; @SELF-EXPLANATORY;
Neuron, Glia cells, Neurotransmitter: https://youtu.be/Nk1sYUkHn1g
Thanks...!
This document discusses a Turing machine theory approach to developing a new therapeutic strategy for some spinal cord and brain conditions using depurative, toxicological, and pharmacological methods. It reviews literature on neurodegenerative diseases and toxic accumulation in the brain and spinal cord. The document suggests developing a conceptual map to translate needs into a practical hypothesis. It examines questions about the roles of the immune system and brain waste removal systems in neurodegeneration and toxic accumulation in different brain regions.
This study examined functional connectivity of the medial temporal lobe (MTL) and its relation to learning and awareness. Participants completed a sensory learning task and were classified as AWARE or UNAWARE based on their ability to learn tone-visual stimulus associations. For AWARE participants, MTL activity correlated with learned discrimination and reversal, engaging dorsolateral prefrontal and occipital cortices. For UNAWARE participants, MTL activity correlated only with simple facilitation and engaged contralateral MTL, thalamus regions. This suggests the MTL contribution to learning depends on its pattern of interactions with other brain regions.
The document summarizes the organization and components of the nervous system. It discusses that the nervous system consists of the central nervous system (CNS) which contains the brain and spinal cord, and the peripheral nervous system (PNS). The basic cells of the nervous system are neurons, which communicate via electrical signals, and neuroglia, which provide support. There are different types of neurons based on their structure and function, such as sensory neurons, motor neurons, and interneurons. The document also describes the various types of neuroglia found in the CNS and PNS, including their roles in insulation, protection, and maintenance of the nervous system.
The document provides detailed information about the nervous system. It discusses the following key points in 3 sentences:
The nervous system consists of neurons and neuroglia that form a network throughout the body. Neurons are electrically excitable cells that sense stimuli and transmit signals via electrical impulses. Neuroglia support and protect neurons, regulate the extracellular environment, and produce myelin for insulation. There are two main divisions of the nervous system - the central nervous system comprising the brain and spinal cord, and the peripheral nervous system including nerves, ganglia and sensory receptors. Neurons and neuroglia have distinct structures and functions in transmitting signals that allow the nervous system to integrate sensory information and coordinate voluntary and involuntary bodily activities
The insular cortex is an area of the brain that is involved in smoking cessation. Scientists recently identified the insular cortex as playing a key role in helping smokers quit. The insular cortex processes internal body sensations and regulates cravings and urges. Damage or abnormalities in this region have been linked to addiction and substance abuse issues.
This document discusses a proposed theory using Turing machines to develop a new therapeutic strategy for treating some spinal cord and brain conditions using a depurative-toxicological-pharmacological approach. It reviews literature on neurodegenerative diseases like Alzheimer's, Parkinson's, and ALS to understand common pathological mechanisms involving accumulation of toxic metabolic byproducts that the central nervous system lacks efficient means of removing. The theory aims to translate these insights into a practical hypothesis for reducing or delaying disease progression. The document also summarizes findings from studies showing cerebrospinal fluid from progressive multiple sclerosis patients causes mitochondrial dysfunction in neurons, identifying a potential biological mechanism and therapeutic target for progressive forms of the disease.
The document compares the nervous systems of invertebrates and vertebrates. Invertebrates have simpler nerve net or ganglionic nervous systems, while vertebrates have more complex and centralized brain-spinal or cerebrospinal nervous systems. The evolution of nervous systems increased complexity from nerve nets to ganglia to brains correlated with increasing complexity of movement and behavior. More complex nervous systems in vertebrates provide advantages but also vulnerabilities like different parts being susceptible to neurodegenerative diseases.
1) ALS is a progressive neurodegenerative disease that affects motor neurons, leading to muscle paralysis. It was first described in 1874 but its pathogenesis remains unclear.
2) ALS may be caused by both increased toxicity from substances like RNA proteins and weakness of the motor neuron system. Genetic mutations and environmental toxins are also implicated in some cases.
3) The document proposes new experimental and drug delivery approaches to better understand disease mechanisms and improve treatment of ALS.
Marines Longart is a neuroscientist seeking a new position. She has extensive experience researching neuronal differentiation and synaptic plasticity. Her work has identified proteins that regulate neuronal development and signaling pathways modulating differentiation. Longart has also studied how neuregulin proteins differentially target neurons and regulate synaptic plasticity mechanisms like long-term potentiation. She is eager to continue her research career at an institution that prioritizes neuroscience.
Neurons are the basic structural and functional units of the nervous system. They have three main parts - a cell body containing the nucleus, dendrites which receive signals, and an axon which transmits signals. Neurons communicate via electrical and chemical signals across synapses. There are different types of neurons classified by structure and function, including sensory neurons, motor neurons, and interneurons. Neurons are formed through neurogenesis, migrate to their destinations, differentiate, and form neural networks. Diseases can cause neuron death. Key neurotransmitters mediate signaling between neurons.
PAGE Running head SCHIZOPHRENIA 1SchizophreniaVernessa.docxkarlhennesey
PAGE
Running head: SCHIZOPHRENIA
1
Schizophrenia
Vernessa Combs
PSY350: Physiological Psychology
December 10, 2019
Schizophrenia
The topic selected was schizophrenia. This is a severe and chronic mental disorder affecting the way humans think, feel and behave. Although this mental disorder is not very common, it has disabling symptoms.
Schizophrenia has continuously been viewed as a disorder that occurs in neurodevelopment. It is associated with a microdeletion syndrome of a chromosome. Neurons migrate to the pial surface from the brain's ventricular zone. "Migration of the neuron cell body is mediated via microtubule-based transport organized by the centrosome. First, the centrosome moves up the microtubule, followed by the nucleus and the cell body” (Pearlson, 2015). Neuronal migrations are reportedly caused by Reelin.
The etiology of schizophrenia is unknown, however, several risk factors have been associated with its development. These include environmental and genetic factors. Genetic factors are, however, insufficient to account for the development of the disease. They must be accompanied by other factors for the disease to develop. "Because the concordance rate for monozygotic twins only approaches 50%, genetic makeup alone is not sufficient for the development of schizophrenia, and non-genetic or sporadic forms of the disorder must exist” (Miyamoto et al, 2013).
Environmental factors that play an important role in the etiology of schizophrenia include obstetric complications such as hypoxia, preeclampsia, and premature birth. Other environmental factors include maternal viral infections and stress occurring in neurodevelopment. Stress during neurodevelopment may be caused by other factors such as microbial infections.
The pathology of schizophrenia includes the transcriptional dysregulation at the cerebral cortex and chromosomal conformations. “Anatomic, neurotransmitter and immune system abnormalities have been implicated in the pathophysiology of schizophrenia” (Miyamoto et al, 2013). Differences have been observed in the brains of people with schizophrenia compared to the brains of people without the disease in neuroimaging studies. The medial temporal areas of the brain have a decreased volume while the ventricles are larger. Structural abnormalities such as volume reductions and ventricular enlargements have been associated with the disease.
The dopaminergic system abnormalities are also associated with schizophrenia. The immune system is also disturbed in people with the disease. “Overactivation of the immune system (eg, from prenatal infection or postnatal stress) may result in overexpression of inflammatory cytokines and subsequent alteration of brain structure and function” (Nuckols et al, 2013). Anatomic abnormalities may also be observed in the hippocampus.
In the prefrontal cortex, there has been a reported increase in neuronal density. One of the areas of the prefrontal cortex, area 9, has been found to h ...
The document summarizes a study that examined the grey matter of multiple sclerosis patients. The study found an absence of functional peroxisomes in the grey matter of multiple sclerosis patients. Peroxisomes help break down toxins and fatty acids in neural cells. The study used staining, gene expression analysis, and fatty acid quantification to show that multiple sclerosis grey matter has significantly fewer peroxisomes and accumulates more fatty acids compared to normal grey matter. As multiple sclerosis progresses, the levels of a peroxisome membrane protein called PMP70 decrease, indicating fewer peroxisomes over time. This absence of peroxisomes may contribute to multiple sclerosis progression by hindering neural cell function.
IL1RN Gene Variant Shows Promising Protection Against Severe COVID-19 in Men ...The Lifesciences Magazine
The IL1RN gene variant, identified by NYU Grossman School of Medicine researchers, offers significant protection against severe COVID-19 in men under 75
1) C. elegans raised in social environments displayed stronger neural activity, as evidenced by more numerous, intense, and larger synapses compared to C. elegans raised in isolation.
2) Behavioral assays also showed C. elegans from social environments had higher response rates to external stimuli and more thrashes per minute than isolated C. elegans.
3) These results support the hypothesis that more social stimulation leads to increased neural plasticity and synaptic strength in C. elegans.
This document summarizes the structure and components of neurons and nerve cells. It discusses that neurons and glia cells are the two main types of cells in the nervous system. Neurons receive and transmit information, while glia cells provide support functions. The key components of a neuron are dendrites, the cell body, the axon, and presynaptic terminals. Information flows from dendrites to the cell body and down the axon. Neurons communicate via neurotransmitters released at presynaptic terminals. The document also outlines the roles of glia cells like oligodendrocytes and astrocytes in myelination and support of neurons.
Genetic mutagenesis screen in mice to identify genes required for proper axon guidance in dopamine pathways:
1) Generate mutations via chemical mutagen or transposon insertion
2) Screen mutant mice for defects in dopamine axon projections
3) Map location of causal mutation and clone the gene
The screen would allow identification of novel genes critical for axon pathfinding in dopamine pathways. Subsequent analysis including complementation tests and linkage mapping would help characterize the genetic basis of any guidance defects found.
Running head MIDTERM ESSAY EXAMINATIONMIDTERM ESSAY EXAMINATION.docxcharisellington63520
Running head: MIDTERM ESSAY EXAMINATION
MIDTERM ESSAY EXAMINATION 2
Biopsychology: Midterm Essay Examination
Question 1
The nature-nurture debate is far from being settled considering the divergent research opinions. The role of biology (nature) and environment (nurture) in development of behavior or personality has motivated extensive research on the issue. The role of genetics in a person’s behavior is difficult to evaluate considering the nature of heredity. Each human cell contains 23 pairs of chromosomes, which means that there are 46 chromosomes with roughly 20,000 genes. Interaction of genes from each member contributes to a specific trait (Pinel, 2013). Heredity is intricate and difficult to evaluate because the human egg and sperm, which are the products of cell division contain 23 unpaired chromosomes. This implies that half of an individual’s genes come from the father and the other half from the mother. Therefore, every person has a unique genetic profile except for identical twins.
The Human Genome Project, which entailed marking genes in the human DNA made it possible to identify genes that contribute to certain diseases such as Huntington’s disease, cystic fibrosis and some forms of cancers (Pinel, 2013). Although the heritability of some diseases and physical traits have genetic foundations, the genetic foundation of behavior is difficult to determine. Even research studies on the behavior of family members cannot establish conclusive relationships between genes and behavior. This is because it is difficult to isolate behavioral traits that have not been affected by environmental factors. Twin studies have attempted to link genetics and behavior because identical twins tend to share similar behaviors compared to fraternal twins (Pinel, 2013). However, these studies are not conclusive because the environments may be similar and identical twins reared together may develop noticeably unlike behaviors. The implication for the biopsychologits is that both environmental and genetics factors play a role in the development of personality (behaviors). This means that there is no controversy at all despite some scientists disagreeing on the contributions of nature and nurture.
Question 2
Neurotransmission is the process through which neurons communicate at the synapses to realize the overall function of the CNS (Central Nervous System). In order to realize long distant communication, neurons possess unique abilities of transmitting electrical signal through axons. Neurons derive input from adjacent neurons through neurotransmitters. The movement of the signal in the neuron is facilitated by the voltage-gated ions channels that cause a short reversal of resting membrane potential l to generate an action potential (Freberg, 2010). The generation of an action potential involves five steps. First, stimuli from adjacent neurons or from sensory c.
The document discusses the evolution of nervous systems in invertebrates and vertebrates. It describes how invertebrates like sponges, cnidarians, flatworms, and mollusks have a ganglionic nervous system with nerve cords and ganglia. Vertebrates evolved a cerebrospinal nervous system with a centralized brain and spinal cord. The cerebrospinal system allows for more complex processing and specialized functions in different brain regions. Comparing nervous system organization across species provides insights into neurodegenerative diseases and potential new treatment strategies.
This pdf is about the Neuron, Glia cells & Neurotransmitters.
For more details visit on YouTube; @SELF-EXPLANATORY;
Neuron, Glia cells, Neurotransmitter: https://youtu.be/Nk1sYUkHn1g
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This document discusses a Turing machine theory approach to developing a new therapeutic strategy for some spinal cord and brain conditions using depurative, toxicological, and pharmacological methods. It reviews literature on neurodegenerative diseases and toxic accumulation in the brain and spinal cord. The document suggests developing a conceptual map to translate needs into a practical hypothesis. It examines questions about the roles of the immune system and brain waste removal systems in neurodegeneration and toxic accumulation in different brain regions.
This study examined functional connectivity of the medial temporal lobe (MTL) and its relation to learning and awareness. Participants completed a sensory learning task and were classified as AWARE or UNAWARE based on their ability to learn tone-visual stimulus associations. For AWARE participants, MTL activity correlated with learned discrimination and reversal, engaging dorsolateral prefrontal and occipital cortices. For UNAWARE participants, MTL activity correlated only with simple facilitation and engaged contralateral MTL, thalamus regions. This suggests the MTL contribution to learning depends on its pattern of interactions with other brain regions.
The document summarizes the organization and components of the nervous system. It discusses that the nervous system consists of the central nervous system (CNS) which contains the brain and spinal cord, and the peripheral nervous system (PNS). The basic cells of the nervous system are neurons, which communicate via electrical signals, and neuroglia, which provide support. There are different types of neurons based on their structure and function, such as sensory neurons, motor neurons, and interneurons. The document also describes the various types of neuroglia found in the CNS and PNS, including their roles in insulation, protection, and maintenance of the nervous system.
The document provides detailed information about the nervous system. It discusses the following key points in 3 sentences:
The nervous system consists of neurons and neuroglia that form a network throughout the body. Neurons are electrically excitable cells that sense stimuli and transmit signals via electrical impulses. Neuroglia support and protect neurons, regulate the extracellular environment, and produce myelin for insulation. There are two main divisions of the nervous system - the central nervous system comprising the brain and spinal cord, and the peripheral nervous system including nerves, ganglia and sensory receptors. Neurons and neuroglia have distinct structures and functions in transmitting signals that allow the nervous system to integrate sensory information and coordinate voluntary and involuntary bodily activities
The insular cortex is an area of the brain that is involved in smoking cessation. Scientists recently identified the insular cortex as playing a key role in helping smokers quit. The insular cortex processes internal body sensations and regulates cravings and urges. Damage or abnormalities in this region have been linked to addiction and substance abuse issues.
This document discusses a proposed theory using Turing machines to develop a new therapeutic strategy for treating some spinal cord and brain conditions using a depurative-toxicological-pharmacological approach. It reviews literature on neurodegenerative diseases like Alzheimer's, Parkinson's, and ALS to understand common pathological mechanisms involving accumulation of toxic metabolic byproducts that the central nervous system lacks efficient means of removing. The theory aims to translate these insights into a practical hypothesis for reducing or delaying disease progression. The document also summarizes findings from studies showing cerebrospinal fluid from progressive multiple sclerosis patients causes mitochondrial dysfunction in neurons, identifying a potential biological mechanism and therapeutic target for progressive forms of the disease.
The document compares the nervous systems of invertebrates and vertebrates. Invertebrates have simpler nerve net or ganglionic nervous systems, while vertebrates have more complex and centralized brain-spinal or cerebrospinal nervous systems. The evolution of nervous systems increased complexity from nerve nets to ganglia to brains correlated with increasing complexity of movement and behavior. More complex nervous systems in vertebrates provide advantages but also vulnerabilities like different parts being susceptible to neurodegenerative diseases.
1) ALS is a progressive neurodegenerative disease that affects motor neurons, leading to muscle paralysis. It was first described in 1874 but its pathogenesis remains unclear.
2) ALS may be caused by both increased toxicity from substances like RNA proteins and weakness of the motor neuron system. Genetic mutations and environmental toxins are also implicated in some cases.
3) The document proposes new experimental and drug delivery approaches to better understand disease mechanisms and improve treatment of ALS.
Marines Longart is a neuroscientist seeking a new position. She has extensive experience researching neuronal differentiation and synaptic plasticity. Her work has identified proteins that regulate neuronal development and signaling pathways modulating differentiation. Longart has also studied how neuregulin proteins differentially target neurons and regulate synaptic plasticity mechanisms like long-term potentiation. She is eager to continue her research career at an institution that prioritizes neuroscience.
1. Melissa Maack
Honors Project Biology 100
Natalie Schmidt
Genetics Related to Autism
ABSTRACT:
Autism or autistic spectrum disorder (ASD) as defined by the medical dictionary is “a complex
developmental disorder distinguished by difficulties with social interaction, verbal and nonverbal
communication, and behavioral problems, including repetitive behaviors and narrow focus of
interest. Sensory problems, restricted interests and activity, language problems” (Miller-Keane
2003). Autism is a heterogeneous disease: over 3000 genes associated with its development.
The disease is not caused by any one single gene, it is caused by the interaction of several
genes working improperly. For this literature review, I have chosen to present five of these
genes: mTOR, CNTNAP2, NRXN1, NLGN3, and MET. After ascertaining the genes to be
studied, the questions asked in this paper were the following: What do they do? How are they
related to nerve cell functioning and pathways?
INTRODUCTION:
.
Autism is a mental condition usually present from childhood, and it is a lifelong disease. There is
little known about it, other than it is a genetic condition. This is a heterogeneous disease. It has
many diverse characteristics. In order to find a solution, one must be able to identify its causes.
It is believed to be a genetic disorder. The purpose of this literature review is to review the
smallest component, the genes. This is a start; a base for further research opportunities.
Materials and Methods:
For the purposes of this literature review, the sources used were: the studies done on genes
from many peer reviewed sources, the autismkb genetic list, Mosby’s dictionary, medical
dictionaries etc. The researchers for the autismkb list used previous studies done on the genes.
Using those studies in conjunction with the algorithm they devised they were able to narrow to
171 genes from a list of 3075 genes. They relied on Genome Wide Association Studies
(GWAS), Genome Wide CNV studies, linkage analysis, low scale genetic association studies,
expression profiling, and other low scale gene studies, and using an algorithm, the study gave
each gene an assigned confidence weight. Confidence weight is the percentage of likelihood to
find that gene in the disease. Ninety-nine were syndromic genes, which is a specific list of
2. genes that are considered to be a part of the disease and are characteristic of this disease.
3022 were non-syndromic genes, which are not suspected or not as likely to be a part of the
disease. 4964 were copy number variations genes (CNVs) or duplications of genes that are not
functional to the body, and 158 linkage region studies (Xu, et al. 2012). Genetic linkage is
independent genes that are close together, and located on the same chromosome (Mosby’s
2013). Linkage region or analysis studies focus on this link. According to their list of parameters,
they used reviewed papers from 2004 to 2010, and the genes listed must have been in at least
two review papers. Using the methods shown below for data collection and the function listed
below they were able to give each gene an assigned confidence weight. Only the best gene
rankings were chosen. The lowest score given by the algorithm was 16% to SHANK2 (Xu, et al.
2012). Below is the process used for their study.
(Figure 1: Flow Chart of Data Collection Xu, L.M., et al. 2012 )
Scorei=0 if no positive evidence.
For N datasets, there are possible K (e.g. N+1) different weights, thus, it forms a KN weight
matrix pool (Xu, et al. 2012).
3. (Figure 8: Distribution of the combined score upon cutoff Xu, et al. 2012)
For the purposes of this literature review the autismkb list was primarily used, and further
narrowed by using the following parameters:
First: Research on the gene in question. For the purposes of this paper the number of autism
related publications needed to have been at least ten studies and publications per gene.
Correlation needs a lot of data in order to be declared possible causation.
Second: In the genes studied, there must have been more positive correlations than negative
correlations with autism overall. A basic math formula was used, which was the number of
positive test results over the number of overall test results, giving a percentage of likelihood. For
the purposes of reducing the number of genes researched in this paper, the percentage of 70
and above was chosen. For example, in the CNTNAP2 gene, ten studies were done, and nine
of those studies were shown to have correlation with symptoms of autism. Using this method,
CNTNAP2 scored ninety percent.
Third: Only genes that scored a confidence rating of 20 or above using the algorithm the
autismkb devised were used. A confidence rating or interval in statistics is the percentage of
likelihood that what is being tested is more or less likely to be present in the entire population. In
4. this case, the confidence rating is the likelihood of the genes to present themselves in the
autistic community according to the data in the studies.
RESULTS:
Brain Cells:
The genes associated with autism have components in the brain as well as other organs. It is
thought that the connections between brain cells may be part of the cause.
The brain is a collection of two categories of cells, the glials and the neurons. This collection of
cells overlaps and allows for sending and receiving of messages in a cascade-like motion
(Südhof, 2008). The glia or neuroglia: cells that act as insulators for electrical impulses between
neurons. There are actually three types of glial cells each type pertaining to its own areas in the
central nervous system. The particular glial cells that act as insulation are called
oligodendrocytes, Schwann cells or myelin sheath cells. These cells provide structure and
support as well as insulation (Purves, et al., 2001). The neurons: These are the functional parts
of the brain, they are cells that conduct electrical impulses from one cell to another (Medical
Dictionary 2006).
Neurons can be classified by direction of the impulses. Unipolar neurons: which has one axon
and one dendrite. Bipolar neurons: while fewer in number than other neurons, have one axon
and one dendrite. Multipolar neurons: have one axon and several dendrites. The other
classification is where those impulses are sent to: Sensory neurons send impulses to the spinal
cord and brain, motor neurons send impulses from the brain and spinal cord to the muscles.
Interneurons send impulses specifically to other neurons (Mosby’s 2013). Several of the genes
involved in autism are interneurons.
How a synapse works:
As ASD is associated with the nerve cells and synapses, it is important to know how a synapse
works. An impulse is sent along a nerve cell, which is protected by the glial cells to the end of its
terminal. The synapses that send the amino acid glutamate are called excitatory synapses,
those that send GABA are called inhibitory synapses. The presynaptic and postsynaptic
membranes must always be perfectly aligned and the cleft must be less than 20 nanometers
across. The presynaptic cell adhesion molecules called Neurexins and the postsynaptic cell
adhesion molecules called Neuroligin are believed to be the bridge between the pre synapse
and post synapse (Südhof, 2008). Within the presynaptic cell, a vesical carrying the glutamate
or GABA goes to the membrane of the cell, then starts to build a bridge between neurons. The
post synapse sends its own bridge portion to complete the transfer. This bridge brings the
neurotransmitter (brain hormone/chemicals) into its membrane at the post synapse. Depending
on the neurotransmitter that the pre synapse sent, depends on the action potential or short term
change in the electrical potential on the membrane of the cells. If it is the amino acid glutamate
it will span the synaptic cleft and to the post synaptic membrane in an effort to open the
5. positively charged calcium ion channels. This will enable the pulse to connect to the post
synapse for transfer. The synapses that release glutamate are called excitatory synapses, those
that release GABA or the inhibitory neurotransmitter, are called inhibitory synapses, which
prevent the ion gate channels from opening. Either of these neurotransmitters change the action
potential of a nerve cell. It either increases its likelihood to travel, or decreases it (Südhof,
2008).
How do the neurons connect?:
Autism research is showing that there is a convergence along the neuronal glutameragic
pathways specifically targeting the post synapses. Glutamate is an amino acid that enables the
post synapse to open its ligand gate channels. When these channels open, it allows ions (e.g.
calcium, potassium, sodium, etc.) to enter the post synapse and increases the cell's action
potential to pass along nerve impulses.
Once a neuron is created, it travels, and once it reaches its destination, it changes shape
(Shenfeng, et al. 2014). This makes it different than other nerve cells; the cell differentiates so
that it can perform specific tasks. Once the cell forms its shape, it has two sides, one that
gathers information: the dendrites, which look like long branches of a tree, and the output (the
axon). The axon sends out a signal to the dendrites that are forming so that they can reach out
to the axon. Once activated, the dendrites grow in response to this signal. Once the dendrites
have reached out to their destination, synaptic connections form (Yun Peng, 2013). These
connections are called the presynaptic neurons, which is a neuron from the axon terminal of one
cell body that sends an impulse across the synaptic cleft to one or more dendrites of the post
synaptic neuron by the release of a neurotransmitter (Medical dictionary 2006). This impulse is
sent to the postsynaptic neuron, via the dendrites by the release of a neurotransmitter from the
axon terminal of the presynaptic cell. (Medical dictionary 2006). Basically, this means that the
dendrites direct the impulse from the presynaptic neuron to the cell body from the cleft. The cleft
is the space between neurons. It measures roughly 10-20 nanometers across from the axon
terminal to the postsynaptic surface (Medical Dictionary 2006).
There are two types of synapses: the excitatory and the inhibitory synapses. Both of these refer
to the synaptic action potential of a cell. Action potential is the likelihood of impulse transmission
conducted from the axon terminal of the pre synapse along the cleft, to the post synapse.
“Action potential is the electrical signal conducted along axons by which information is conveyed
from one place to another in the nervous system” (Purves, et al., 2001). The likelihood of this
impulse is either increased or decreased depending on the neurotransmitter output from the
axon terminal of the presynaptic neuron. Glutamate, an amino acid increases likelihood
(excitatory), conversely GABA decreases likelihood (inhibitory) (Purves D, et al. 2001).
6. How do Neuronal Pathways affect those with ASD?:
Several of the genes that this paper examines are genes that affect neuronal pathways, and
several seem to converge on the glutamate (excitatory) synapses. “Multiple ASD susceptibility
genes converge on cellular pathways that intersect at the postsynaptic site of glutamatergic
synapses” (Guomei Tang, et al. 2014). Glutamatergic simply means having to do with glutamate
(Medical Dictionary 2006). Glutamate is the most common excitatory neurotransmitter. It is
actually more prevalent than serotonin and dopamine combined. It has a role in memory,
sensory nerves, and in impulse transmission as this particular neurotransmitter opens the ligand
gate channels in the post synapse (Fitzgerald, et al. 2012).
ASD is characterized by issues with social interactions, communication, and repetitive behaviors
(Guomei Tang, et al. 2014). Autism is considered to be a neurodevelopment disorder, which by
using etymology, is a disorder that deals with the growth and development of the brain. This can
lead to anxiety and issues with social interactions. It can also lead to issues with neuron
excitability, and complex information processing (Pat Levitt, et al. 2004). Several studies are
showing that if the interneuron is changed in any way, it could be part of the pathology process
that causes ASD (Pat Levitt, et al. 2004). The Diagnostic and Statistical Manual of Mental
Disorders (DSM) 5 tells us that issues with the following are common while not expressed in all
individuals, is seen frequently in varying degrees of severity. This list is not exhaustive however,
and doesn’t include all symptoms (American Psychiatric Association 2013).
• Social interactions include:
1. social-emotional reciprocity
2. Give and take in a conversation
3. Improper rephrasing to help the audience understand the speaker.
4. Greeting, the sharing information, appropriate to the social context of the
situation.
5. An individual with ASD may fail to attempt communication at all or respond
in a way that is unexpected.
• Communication:
1. Proper eye contact
2. Body language
3. Use of gestures
4. Some of these communications issues are changing the context per situation
or to the needs of the other participant(s). One example would be the
different manners of speech used with an adult versus the way one would
speak to a child.
5. The volume of the voice
6. Use of overly formal language
7. 7. Misunderstanding of idioms, and taking jokes or phrases literally are
common with ASD.
Repetitive behaviors:
1. Flapping of the hands,
2. Constant fidgeting, bouncing of the legs and so on.
3. The repetitive use of objects; playing with an object over and over, flipping
it, toying with it.
4. Repeating noises and phrases that they hear called echolalia, sometimes
when in high state of emotion repetition of self as well.
5. Repetition also refers to routines and insistence upon them.
6. Severity is determined by the repetitive behaviors category
(Symptoms of ASD American Psychiatric Association 2013)
Neurexin and neuroligin families:
These families are important in autism due to their functions. They are responsible for creation
of bridges across the synaptic clefts to aid in transmission of impulses. The neurexin family is
located on the presynaptic membrane. The neuroligin family is located on the post synaptic
membrane. Their function is cell adhesion in the receptor sites; providing a bridge between the
presynaptic and postsynaptic membranes. The neurexin and neuroligin families build a bridge
across the synaptic cleft. This is one of the primary functions for the neurexin and the neuroligin
families. Other functions of these families include: cell growth, differentiation (cell change to
carry out a specific function), proliferation (increase in cells), apoptosis (cell death), their
repeats, and cell migration as well (NCBI. 2015, UCSC. 2015). When a pulse is sent through the
cell and to the presynaptic membrane, it changes the electrical ability to increase or decrease
probability to send a message across (action potential). This action potential releases one of
two neurotransmitters or brain hormones/chemicals GABA which decreases action potential of
the neuroligin, or glutamate which increases the likelihood of action potential to the next cell
(Medical Dictionary 2006). This particular gene has also been thought to have a major
developmental role in the mitigation (reduction) and development of neurons, and is shown to
be expressed in the brain region where the excitatory and inhibitory interneurons come from.
This has led to speculation that this would also lead to the development of circuits in the brain
(neuronal pathways) (Olga Peñagarikano and Daniel H. Geschwind 2012). It is also required for
dendritic spinal development, and are responsible for synaptic connectivity (Olga Varea, et al.
2015). This pathway suggested to be an underlying factor in ASD pathogenesis involves the
trans-synaptic interactions between neurexins and neuroligins (Südhof, 2008). This disease
may affect how impulses are passed from the presynaptic membrane to form a bridge to the
post synaptic membrane. The space between them is nanometers across, and if they are not
perfectly in sync with each other, and/or if they are not extending the bridge pieces correctly,
8. messages are lost. This is called the trans synaptic interaction hypothesis. This hypothesis was
confirmed by the discovery of mutations in the neurexin and neuroligin family bridges. This
mutation can alter homeostasis and/or impair the development of synapses (Jindan Yu, et al.
2011).
Chromosome Overview:
The human body has 46 chromosomes, 2 are gametes or sex cells and 44 create everything
from hair color to inherited illnesses. Chromosomes are the home of the genes. Each gene has
a location on the chromosome called a loci or locus (Mosby’s 2013). The graphic presentation of
this mapping of the locations of the genes on the chromosome and the relative distance
between each gene is called genetic or linkage mapping (Mosby’s 2013). The importance of
chromosomal mapping may allow us to see specific chromosomes that are being affected that
cause autism, which is why linkage region studies are done. Linkage region or analysis studies
find genes that are thought to be part of the pathology for a disease, and scientists have found
more often than not that two or more genes are seen together on the same chromosome
(Mosby’s 2013).
Chromosomes associated with autism:
Chromosome 7 has two genes that are shown to be contributing causes of autism as well as the
regulator gene for both. Two of the genes researched are on chromosome 7: CNTNAP2 and
MET as well as their regulator FOXP2. CNTNAP2 is the largest gene in the human genome.
This gene takes up 1.5% of the entire chromosome it is on measuring 2.30 kb across (NCBI
2015). A KB is a kilobase, a measurement of 1000 nucleotides or base pairs (Mosby’s 2015).
Chromosome 7 is responsible for the instructions for making proteins and growth of tissues and
organs before birth, which has also associated it with cancer (Hillier et al. 2003, Nakabayashi K
et al. 2008). This chromosome was also one of the largest that was sequenced in the original
human genome study in 2003 (Washington University School of Medicine 2003). Overall, it
represents more than five percent of the total DNA in cells. The size of this chromosome and
the size of the genes on it make chromosome 7 a very important gene in the autistic research in
as much as this particular chromosome and the genes on it infiltrate a very large portion of the
overall DNA. Any deletions, frame shift mutations, or CNVs could upset the balance of the body
as a whole (Nakabayashi K, et al. 2008). NLGN 3 and 4 are located on the X gamete (Yu, et al.
2011) this is directly inherited along the sex cells. This would also explain why more males
present autism than females (Yu et al. 2011). Basic biology tells us that females have a
possibility of inheriting a normal X chromosome alongside of the abnormal X. Males only have
one X chromosome, the other is a Y. MTOR is located on chromosome 1 and is directly related
cell responses to DNA damage (NCBI 2015), to deprive cells of nutrients so they will induce
autophagy (Guomei Tang., et al. 2014). Chromosome 1 is the largest chromosome in the
human genome (NCBI 2015). NRXN1 is located on chromosome 2 (NCBI 2015) and is part of
the neurexin family of genes that are responsible for building a bridge to the neuroligins for
transmission of impulses across synapses (Südhof, 2008).
9. The Genes:
Met
According to a study done in 2014, this gene is thought to relate to the autistic characteristics of
cognition, social and language skills and executive functions. The researchers go on to say that
this would lead to reduced connectivity to the temporoparietal lobes (the space where the
temporal lobes and the parietal lobes meet) which are thought to be the main area for MET
expression. It also goes further to say that MET influences many neurodevelopmental areas.
This gene is responsible for normal pathway integrity in humans in very early developmental
stages (Shenfeng Qiu, et al, 2014). Met is a gene that regulates dendritic spine and neural
morphogenesis (etymologically broken down to mean morpho (change), and genesis (creation).
According to Weinstein this also relates to the process of creating a nerve cell. This process is
called induction during early stages of development signals are sent from an organized cluster
of specialized cells that cause neural development (Weinstein DC, et al. 1999). In later
development too little of the MET gene leads to wildly growing dendrites. Which are more
complex than in normal humans, and to mutations of their formation, and the timing of the
glutamatergic synapses in the postsynaptic membranes. These synapses take in the amino acid
glutamate to open the ion channels so that the positively charged calcium ion particles can pass
into them. The loss or gain of MET in early development leads to changes that are opposite in
nature than one would expect. Changes in dendritic spine shape and complexity, spine creation
and change, and the timing of glutamatergic synapse maturation. Deletion of the gene shows
faster than expected growth of the excitatory synapses. Current studies have shown that MET
receptor signals are unique, and they have a role in controlling neurons and dendritic spine
morphology (Shenfeng Qiu, et al, 2014).
mTOR
mTOR is a gene that regulates cell growth. This gene is also a regulatory gene in autophagy,
has roles in cell proliferation (increase in cell numbers), cell motility or movement, cell survival,
protein synthesis that is RNA specific, and RNA transcription (Chang Hwa Jung, et al. 2010,
Joungmok Kim et al. 2103). It has been suggested by recent studies of the gene that it may be
responsible for failure in the pruning mechanism (autophagy of the cells) of excitatory synapses
in autism. This failure is thought to result in the social interaction deficits that are characteristics
of autism. This would increase neuronal pathways that lead to the frontal cortex of the brain
(Guomei Tang, et al. 2014). These excitatory synapses are the synapses that release the amino
acid glutamate which opens the positive calcium ion channels in the postsynaptic cell
membrane to increase likelihood of action potential (Medical Dictionary 2006). This increase
would allow for continued growth of dendrites increasing density. mTOR silences AMPK and
another gene UNK1 instead of being silenced enough for the autophagy process to complete
(Guomei Tang, et al. 2014). Most of the genes that make one susceptible to autism, seem to be
connected in some way to the presynaptic and postsynaptic pathways. This appears to be
10. specific to the pathways that send and those that receive the amino acid glutamate in
transmission of impulses. Tang and his colleagues go further to say that this would indicate
abnormally functioning spines of the dendrites. Spines are the main branch for the dendrites.
The researchers noticed that consistently increased spine density is observed in frontal,
temporal, and parietal lobes in ASD brains. This led to changes in synapse structures. Spinal
density begins to grow at birth, and then during childhood it peaks. During the teenage to adult
years, this number decreases dramatically. This enables the immature circuitry and cells to
mature. When the circuitry is forming in utero, the circuitry forms rapidly. This continues for a
short period during development and into early childhood. Then, in the normal brain after the
peak of neuronal circuitry is reached, the circuitry begins to decline by up to fifty percent by the
time the child has reached adulthood. In the autistic brain however, this density is only down by
sixteen percent. (Guomei Tang, et al. 2014). Synapses must be able to balance creation and
destruction in order to maintain homeostasis (Guomei Tang, et al. 2014). The overproduction of
mTOR inhibits some of the autophagy components to mature into a viable auto phage cell
(Guomei Tang, et al. 2014, Hall MN. 2008). To explain how this works it needs to be known that
AMPK is the “on” switch allowing the cell to activate ULK1 a gene that creates a protein used
early on in the autophagy creation process, and if it has been determined that if the cell is in a
state of ill health; AMPK starts creating autophagy cells. MTOR is the regulator gene for this
process. If mTOR is overproduced, the AMPK cannot create autophagy cells (Joungmok Kim, et
al. 2103). In a 2014 study, in dendritic spines, (dendrites being the “branches” for message relay
in nerve cells), autophagy was found to be necessary to remove unwanted connections. In early
development, excitatory cells are necessary in abundance for the brain to grow, however, they
start to degrade and decline in numbers from childhood to adulthood. However, these are
immature cells that formed during the growth process. They must be able to grow to correct size
in order to function. The process of removal for the brain circuits allows the synapses and
neuronal circuits to mature for proper function (Guomei Tang, et al. 2014). There is a noted
increase in population of dendrite spines in those with ASD (Hutsler JJ, et al. 2010).
CNTNAP2
CNTNAP2 is considered a focus of autism and is seen in many individuals with this disorder. Of
the times it has been studied specifically, several cases this gene is shown to be present in
those with ASD to not be functioning correctly. The protein this gene produces is involved with
language development: one of the key issues with autism. This, along with communication, and
cognitive processing are some of the key areas associated with autistic spectrum disorder. This
gene is also involved with synapse production, and dendrite formation which pass messages
along to other cells, or collect said information (Pedro Rodenas-Cuadrado et al. 2014). It is
suggested that deletion mutation of parts of the gene or over production are the causes for
autism (Pedro Rodenas-Cuadrado et al. 2014, Christiane Zweier, et al. 2009). This is still under
debate. This gene is an interneuron specific gene, meaning that it sends messages to other
central nervous system neurons only. CASPR2 is the protein that the CNTNAP2 codes for. This
particular gene is in a superfamily called neurexins, which aid in cell to cell interactions within
the nervous system. It has been suggested that those individuals with ASD who carry the risk
variant of this gene may have effects to the structure and function in the network of pathways
11. related to autism. These areas relate to cognitive processing in the brain (Pedro Rodenas-
Cuadrado et al. 2014).
NRNX1
A 2009 study of this gene in relation to autism found that the NRNX1 is a gene from the same
family as CNTNAP2, the neurexin family. NRXN1 has been shown that along with CNTNAP2, to
be among the largest genes. When there are too many CNVs (copy number variations or
duplications) of the genes, it reorganizes synaptic shape, and increases density in population of
synapses (Christiane Zweier, et al. 2009). Conversely, patients with deletions of NRXN1 have a
range of conditions including: autism, speech delay, social communication difficulties,
developmental delays, learning difficulties, ADHD, epilepsy, and behavior problems (Sarah
Curran et al. 2013).
NRXN1 and CNTNAP2 are nuerexins, and one of their function is to release neurotransmitters
that cause cellular growth. With too many CNVs of one or the other of the genes, synapses get
reorganized and therefore, can cause issues by allowing the post synaptic gene to receive more
glutamate simply because there are more genes producing it. If either this gene or CNTNAP2
are increased in number, it can reorganize the synapses, increasing density of the active zones
for glutamate, and allow for more glutamate to be in the brain (Christiane Zweier, et al. 2009).
The slightest changes to the synapses can result in too little or too much connectivity in the
brain. If it is moved slightly, connections may fail entirely because of reorganization. If synapses
are not perfectly aligned with each other, transmission of impulses will fail. If the synapses are
not forming correctly, or if they are not aligning with their counterparts, the impulses cannot get
across. Too much production from the excitatory synapses means out of control growth. The
study went on to say that no growth inhibition points to a lack of communication between the
synapses (Christiane Zweier, et al. 2009). If it causes extra branches, or too few branches of
those nerve cells to appear, the GABA neurotransmitter fails to issue a stop command for action
potential. This can increase the overall number of cells to unexpected amounts in areas of the
brain that they are located in, and cause too much production of neurotransmitters. This as has
been said will cause an increase in density as the synapses are unable to get enough GABA to
combat the glutamate. When this neurotransmitter (glutmate) is overproduced, it allows for
growth. The theory that synapse impulse communication, which is a suspect in autism, may be
caused by either the overexpression of this or the CNTNAP2 gene. This can cause abnormal
neuronal excitability, processing of external information and complex information, as well as
issues with anxiety and issues with social interactions (Pat Levitt, et al. 2004). This could lead to
behaviors such as anxiety and difficulty in social interactions, which are two of the ASD
phenotypes. It can also lead to cognitive and speech delays (Wiśniowiecka-Kowalnik, et al.
2010).
12. NLGN3 and NLGN4
As these genes are frequently listed together, in various studies, so this paper will be focused
on them as a unit as well. These genes are located on the post synaptic membrane, and as with
many nueroligins their function is cell adhesion in the receptor sites; providing a bridge between
the presynaptic and postsynaptic membranes. NLGN3 and NLGN4 are neuroligin genes on the
postsynaptic membrane and may be involved with formation and remodeling of the central
nervous system synapses (Jindan Yu, et al. 2011). Synapse development is imperative to a
normally functioning brain. Without it, and without the messages being able to cross the space
between synapses, messages such as a crucial start or stop are prevented. According to a
study in 2011, frame shift mutation of both of these genes seems to contribute to developmental
delay. This delay in autistics is generally seen as language delays, or delays in speech. The
study went on to say the researchers also found that a NLGN3 specific frame shift mutation has
also been thought to affect information processing. The theory they proposed in this study is
that these genes are affecting neuronal networks by changing networks structure, architecture
and synchronization (Jindan Yu, et al. 2011). Another study in 2009 on the NLGN4 gene
specifically suggested that NLGN4 is prevented from traveling to the membrane disabling its
ability to transport the impulse into the cell. It went on to show that there is a direct correlation of
functional effects of NL4 mutation in the clinical phenotype in humans. This supports the trans
synaptic theory interaction hypothesis of ASD (Chen Zhang, et al. 2009).
CONCLUSIONS:
The genes associated with autism all seem to converge on the mechanisms responsible for the
glutamate excitatory synapses. There is an autophagy regulatory gene, the dendrite and neuron
growth gene, as well as genes that are associated with the transmission of the amino acid
glutamate. There were two families which were researched using various genes: the neurexin
family, responsible for the presynaptic membrane transmission of glutamate to the post synapse
and the neuroligin family which is located in the postsynaptic membranes. The neurexins and
neuroligins are bridges between the synapses at the cleft, a space that is 10-20 nm wide.
Autophagy malfunction of the mTOR, which prevents the dendritic pruning associated with the
frontal cortex region of the brain, and is also believed to cause the social interaction deficits
frequently seen in autism. MET, which is thought to aid in cognition, social and language skills
and executive functions. MET is responsible for the normal circuitry integrity in humans in very
early developmental stages (Shenfeng Qiu, et al, 2014). MET is believed to be a gene that aids
in neuron and dendrite formation and change. MET is another gene responsible for cognition,
social and language skills and executive functions. The job of MET is to aid in creation and
morphogenesis of the neurons and dendrites. This gene also encodes for the placement of the
axons, as well as decisions in cell fate. The CNTNAP2 gene is involved with language
development, communication, and cognitive processing. These are key areas associated with
autistic spectrum disorder. This is the largest gene in the genome and comprises about five
percent of all the DNA in the body. This gene is also involved with synapse and dendrite
13. formation (Pedro Rodenas-Cuadrado, et al. 2014). NRXN1, a member of the nuerexin family,
and is a cause of anxiety, social interaction issues, speech and cognitive delays, social
communication difficulties, and learning difficulties. NLGN3 and NLGN4, which are a part of the
neuroligin family and are responsible for the reception of the neurotransmitters that the neurexin
family sends. This then allows the ion gate channels to open or close in order to allow action
potential of the nerve to change to either favor impulse send, or to decrease the ability for it to
send. These genes are concerning various parts of developmental delays in speech and
language, and in information processing.
There is research being done on the glutamate pathways, however, more research
needs to be done on these pathways. Perhaps this is the next phase in solving the puzzle of
autism. One might also look into the possible locations of the activity in the brain that these
pathways lead to. Researchers could review articles that referred to more connections than
necessary in the brain. Another possible area of research might be to consider the theories that
neuronal connections while greater in number near the frontal cortex and hippocampus, but the
longer term connections to the tempopariatal lobes may be lacking (Shenfeng Qiu, et al, 2014).
One might research more into those areas of the brain, and determine if the glutamate
pathways actually led to those regions theorized. One must be able to build from the
foundations up. This paper was a start, a base. More research needs to be done to determine
the paths, rather than just being a theory, to being actuality. Now that the groundwork has been
laid, it is time to continue research on where that groundwork leads to.
What are the implications of those pathways? Can the pathways be tested to find
evidence for what the studies are suggesting? Is there even the slightest clinically significant
differences between ASD brains and normal brains in the areas in the brain thought to be
affected by ASD? Is there a way to find this or even look into the neuronal connections and see
if there is indeed a pattern to it? Studies have shown some hyper connectivity in certain studies
already. One might wonder then is there a pattern to it? Do they actually connect back to the
glutamate pathways?
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