Presentation made by Jernej Ule on the 20th of April, 2017, at the live webinar hosted by Alzforum: http://www.alzforum.org/webinars/webinar-cortex-aging-too-fast-blame-tmem106b-and-progranulin
Leaky Blood-Brain Barrier a Harbinger of Alzheimer s Disease - presentation made at Alzforum's live webinar of February 17, 2015. See details at: http://www.alzforum.org/webinars/leaky-blood-brain-barrier-harbinger-alzheimers
Presentation made by Abeliovich and Rhinn on the 20th of April, 2017, at the live webinar hosted by Alzforum: http://www.alzforum.org/webinars/webinar-cortex-aging-too-fast-blame-tmem106b-and-progranulin
This document discusses building predictive network models of Alzheimer's disease (AD) by integrating multi-omic data from thousands of individuals who were genotyped and had their DNA, RNA, proteins, and metabolites profiled from various tissues. Networks can be linked to human diseases to help motivate relevance for human treatments. One network identified connections between inflammatory bowel disease and AD driven by microglia pathways. Two papers in the New England Journal of Medicine reported that rare variants in TREM2 gene associate with increased risk of late-onset AD. The network analysis identified TYROBP as a key regulator of a prefrontal cortex module correlating with multiple AD clinical covariates enriched for immune pathways related to microglia activity.
1) Amyloid precursor protein (APP) is an integral transmembrane protein coded for on chromosome 21 that is overproduced in Alzheimer's disease and Down syndrome.
2) Cleavage of APP by proteases normally produces signaling peptides, but overproduction leads to accumulation of amyloid plaques that can cause neuron death.
3) The plaques are especially problematic in the hippocampus and impair functions like learning and memory.
Microglia-Derived ExosomalmicroRNA-151-3p enhances functional Healing After Spinal Cord Injury by attenuating Neuronal Apoptosis via Regulating the p53/p21/ CDK1 Signaling Pathway
This document discusses potential stem cell sources and treatments for spinal cord injury. It summarizes preclinical studies showing umbilical cord blood cells improve recovery when transplanted shortly after spinal cord injury in rat models. Recent clinical trials have transplanted umbilical cord blood cells into humans with chronic spinal cord injury. The document also discusses that lithium treatment may reinforce regeneration by increasing neurotrophin production and survival of transplanted cells in injured spinal cords. ChinaSCINet is conducting several clinical trials testing lithium and umbilical cord blood cell transplants to treat spinal cord injury.
The document discusses bone mesenchymal stem cell-derived extracellular vesicles (exosomes) encapsulated in thermosensitive hydrogels for accelerating osteogenesis and angiogenesis. Mesenchymal stem cells and exosomes released from them play an important role in bone formation. Laboratory techniques like western blot, immunofluorescence, and RT-qPCR were used to analyze protein expression and exosome uptake related to bone formation and angiogenesis. The investigation represents a breakthrough that could allow bone regeneration through exosome therapy and avoid more invasive procedures.
Stem Cells in the Treatment of Alzheimer's DiseaseNatasha Delgado
Stem cells, including neural stem cells, bone marrow stromal cells, and embryonic stem cells, show potential for treating Alzheimer's disease. Neural stem cells can differentiate into neurons, astrocytes, and oligodendrocytes and secrete neurotrophic factors that may help regenerate cholinergic neurons damaged in Alzheimer's. Bone marrow stromal cells may migrate to the brain and help reduce amyloid plaques. Embryonic stem cells can also differentiate into neural cells but research faces limitations including immune response and ensuring proper differentiation. Stem cell transplantation aims to replace lost neurons and secret neuroprotective factors to help cognitive function.
Leaky Blood-Brain Barrier a Harbinger of Alzheimer s Disease - presentation made at Alzforum's live webinar of February 17, 2015. See details at: http://www.alzforum.org/webinars/leaky-blood-brain-barrier-harbinger-alzheimers
Presentation made by Abeliovich and Rhinn on the 20th of April, 2017, at the live webinar hosted by Alzforum: http://www.alzforum.org/webinars/webinar-cortex-aging-too-fast-blame-tmem106b-and-progranulin
This document discusses building predictive network models of Alzheimer's disease (AD) by integrating multi-omic data from thousands of individuals who were genotyped and had their DNA, RNA, proteins, and metabolites profiled from various tissues. Networks can be linked to human diseases to help motivate relevance for human treatments. One network identified connections between inflammatory bowel disease and AD driven by microglia pathways. Two papers in the New England Journal of Medicine reported that rare variants in TREM2 gene associate with increased risk of late-onset AD. The network analysis identified TYROBP as a key regulator of a prefrontal cortex module correlating with multiple AD clinical covariates enriched for immune pathways related to microglia activity.
1) Amyloid precursor protein (APP) is an integral transmembrane protein coded for on chromosome 21 that is overproduced in Alzheimer's disease and Down syndrome.
2) Cleavage of APP by proteases normally produces signaling peptides, but overproduction leads to accumulation of amyloid plaques that can cause neuron death.
3) The plaques are especially problematic in the hippocampus and impair functions like learning and memory.
Microglia-Derived ExosomalmicroRNA-151-3p enhances functional Healing After Spinal Cord Injury by attenuating Neuronal Apoptosis via Regulating the p53/p21/ CDK1 Signaling Pathway
This document discusses potential stem cell sources and treatments for spinal cord injury. It summarizes preclinical studies showing umbilical cord blood cells improve recovery when transplanted shortly after spinal cord injury in rat models. Recent clinical trials have transplanted umbilical cord blood cells into humans with chronic spinal cord injury. The document also discusses that lithium treatment may reinforce regeneration by increasing neurotrophin production and survival of transplanted cells in injured spinal cords. ChinaSCINet is conducting several clinical trials testing lithium and umbilical cord blood cell transplants to treat spinal cord injury.
The document discusses bone mesenchymal stem cell-derived extracellular vesicles (exosomes) encapsulated in thermosensitive hydrogels for accelerating osteogenesis and angiogenesis. Mesenchymal stem cells and exosomes released from them play an important role in bone formation. Laboratory techniques like western blot, immunofluorescence, and RT-qPCR were used to analyze protein expression and exosome uptake related to bone formation and angiogenesis. The investigation represents a breakthrough that could allow bone regeneration through exosome therapy and avoid more invasive procedures.
Stem Cells in the Treatment of Alzheimer's DiseaseNatasha Delgado
Stem cells, including neural stem cells, bone marrow stromal cells, and embryonic stem cells, show potential for treating Alzheimer's disease. Neural stem cells can differentiate into neurons, astrocytes, and oligodendrocytes and secrete neurotrophic factors that may help regenerate cholinergic neurons damaged in Alzheimer's. Bone marrow stromal cells may migrate to the brain and help reduce amyloid plaques. Embryonic stem cells can also differentiate into neural cells but research faces limitations including immune response and ensuring proper differentiation. Stem cell transplantation aims to replace lost neurons and secret neuroprotective factors to help cognitive function.
This document discusses several neurodegenerative diseases including Parkinson's disease, ALS, and poliomyelitis. For Parkinson's, stem cell therapies show promise by producing dopamine neurons. For ALS, mesenchymal stem cells and neural progenitor cells have been shown to protect motor neurons and promote recovery in rodent models. Clinical trials are underway injecting neural progenitor cells into the spinal cords of ALS patients. Poliomyelitis destroys motor neurons and can cause paralysis, though vaccines have nearly eradicated it. The document also briefly discusses post-polio syndrome and tabes dorsalis.
Stem cell therapy in neurological disorderNeurologyKota
Stem cell therapy shows promise for treating neurological diseases. Various stem cell sources like embryonic stem cells, induced pluripotent stem cells, and adult neural stem cells can differentiate into neural cells and may be able to replace damaged or dead cells. Clinical trials have been conducted for conditions like Parkinson's disease and stroke with some patients showing improvements, but larger trials are still needed to confirm efficacy and safety. Challenges remain in ensuring stem cells engraft and properly differentiate in the brain.
This document provides an overview of neural stem cells (NSCs). It discusses the location and development of NSCs in the central nervous system. Key cell signaling pathways that regulate NSCs, such as Notch and WNT, are described. Common markers used to identify NSCs are discussed, including Nestin, Sox2, Musashi-1, Pax6, and CD133. Factors that affect the growth and multiplication of NSCs, such as growth factors EGF and FGF, are outlined. Methods for isolating and culturing NSCs are presented. Finally, potential therapeutic applications of NSCs are reviewed, along with some current clinical trials utilizing NSCs.
This document discusses stem cell therapy research for spinal cord injuries. It summarizes that spinal cord injury was the first condition targeted in a human clinical trial using stem cells derived from embryonic stem cells, begun by Geron in 2010 but later cancelled for financial reasons. The trial involved injecting oligodendrocyte progenitor cells (GRNOPC1) into patients' spines 1-2 weeks after injury, which were intended to produce new oligodendrocytes and potentially allow new movement. While stem cell research holds hope, the field is still in its infancy and traditional Chinese herbal medicines have also shown promise in improving locomotor function in rats with spinal cord injuries.
Stem cells show promise for treating various brain and nervous system disorders. Neural stem cells can differentiate into neurons, astrocytes, and oligodendrocytes and may be able to repair injured brain and spinal cord tissue. Preclinical and clinical trials have shown stem cells can restore function in diseases like Parkinson's and stroke. However, challenges remain in optimizing donor sources, ensuring cell viability after transplantation, and developing techniques to integrate cells and reconstruct pathways. Overcoming these challenges could realize stem cells' potential to develop new treatments.
Marc Dhenain Alzforum Webinar - Dec 7, 2016Alzforum
Presentation made at the Alzforum's live webinar of December 5, 2016, titled "Is Alzheimer’s Disease a Uniquely Human Disorder?" - review additional information and recording at www.alzforum.org/
This document describes a study aiming to induce axonal regeneration in retinal ganglion cells through epithelial-mesenchymal transition. The researcher hypothesized that overexpressing epithelial-mesenchymal transition master regulators in retinal ganglion cells through AAV viruses would cause them to regain the ability to grow axons after injury. The experimental design involved cloning master regulators into AAV2 plasmids, transfecting retinal ganglion cells, performing optic nerve crush surgery, and observing axon regeneration. Preliminary results found that master regulators like Twist induced more axonal regeneration compared to controls, indicating the ability to initiate regeneration in senescent tissue.
This document discusses oligodendrocytes, the cells that form myelin in the central nervous system. It describes their role in development, diseases like multiple sclerosis where remyelination fails, and potential therapies to promote remyelination. A clinical trial was conducted using neural progenitor cell transplantation to treat Pelizaeus-Merzbacher disease, a fatal leukodystrophy caused by myelin deficiency. Research suggests the Wnt signaling pathway inhibits oligodendrocyte differentiation and myelination, and a small molecule Wnt inhibitor was found to accelerate remyelination in mice.
Zinc finger nucleases (ZFNs) are engineered restriction enzymes
designed to target specific DNA sequences within the genome.
Assembly of zinc finger DNAbinding domain to a DNA-cleavage
domain.
This document discusses engineering 3D skeletal muscle tissue from induced pluripotent stem cell (iPSC)-derived myogenic cells and biomaterials. The author used human iPSCs differentiated into myogenic progenitors to generate a 3D muscle model. They investigated using a ROCK inhibitor to reduce apoptosis and increase cell density in the 3D culture. The results demonstrate the potential for this muscle engineering platform to be used for disease modeling, personalized drug screening, tissue replacement, and studying myogenesis.
This document summarizes a webinar discussion on a network analysis study of gene expression data from post-mortem brain samples of Alzheimer's disease patients and controls. The study used large sample sizes and extensive clinical characterization to identify gene co-expression modules associated with different brain cell types and Alzheimer's pathology. A microglia module showed increased expression correlated with neurofibrillary tangle burden in controls, suggesting microglia may play an early role in Alzheimer's disease pathogenesis. The top hub gene in this module, TYROBP, has also been found upregulated in tangle-bearing neurons, consistent with microglia involvement in early Alzheimer's disease.
This document summarizes key aspects of neurons and neurotransmission. It describes the basic anatomy of neurons including the cell body, dendrites, and axon. It explains how electrical signals called action potentials are conducted down axons and transmitted across synapses to other neurons. The roles of ion channels and neurotransmitters in generating and transmitting these signals are also outlined. Finally, it provides an overview of supporting glial cells in the brain and peripheral nervous system.
Edgardo J. Arroyo is an Associate Research Scientist at Yale University School of Medicine who has extensive experience researching various aspects of myelin formation, degradation, and regeneration in the central and peripheral nervous systems. His research has focused on elucidating the cellular mechanisms and microanatomy of neuron-glial interactions using techniques such as immunohistochemistry, confocal microscopy, and biochemistry. He has studied topics such as the effects of spinal cord injury, stem cell transplantation, sodium channel expression after nerve damage, and how demyelination affects the molecular organization of nodes of Ranvier.
Stem cell Therapy in Neurological diseases Ibad khan
Stem cells can differentiate into various cell types and divide to produce more stem cells. There are two main types: embryonic stem cells from fertilized eggs and adult stem cells found in tissues. Stem cells are important for potential treatments as they can generate large numbers of cells from a limited source and may be obtained from patients. While embryonic stem cells show potential for treating conditions, their safety requires further investigation. Adult stem cells are used in therapies like bone marrow transplantation. Stem cell transplantation faces challenges like preventing scar tissue formation and ensuring proper differentiation and integration into host circuits.
1. The document discusses how trigger mechanisms in cell division provide quality control by monitoring nuclear structure and delaying cell division if not correct.
2. It also discusses how unnatural genes designed in a lab can be used to replace missing DNA in cells to keep them alive by fixing mutations.
3. Introducing these artificial DNA sequences allowed previously non-viable E. coli cells to survive, demonstrating how engineered genes can rescue cells.
Neuronal and glial differentiation of human pluripotent stem cellsDiana Santos
This document summarizes research on differentiating human pluripotent stem cells into neuronal and glial cells. It discusses protocols for generating several neural cell types, including dopaminergic neurons, motor neurons, GABAergic neurons, cholinergic neurons, retinal cells, and oligodendrocytes. These differentiation techniques aim to provide functional cells for applications in disease modeling, drug discovery, and regenerative medicine for conditions like Parkinson's, ALS, retinal degeneration, and multiple sclerosis. However, improving differentiation efficiency and safety is still needed, especially for induced pluripotent stem cells.
The accelerated clinical course of prion disease in mice compromised in repair of oxidative DNA damage. The study observed the progression of experimental prion disease in mice with compromised DNA repair capacity. Mice either lacking or overexpressing DNA repair genes were inoculated with prions and monitored. Increased PrPsc deposits and earlier symptoms were seen in mice with DNA repair deficiencies, showing oxidative DNA damage may contribute to faster prion disease progression.
The document discusses a study examining the progression of experimental prion disease in mice with compromised DNA repair capacity. The study found that mice lacking genes responsible for repairing oxidative DNA damage developed prion disease at an accelerated clinical course compared to wildtype mice. This suggests oxidative DNA damage contributes to prion disease pathogenesis. The study analyzed levels of disease-associated prion protein and markers of neurodegeneration in brain tissue over time between the two mouse models.
This document discusses several neurodegenerative diseases including Parkinson's disease, ALS, and poliomyelitis. For Parkinson's, stem cell therapies show promise by producing dopamine neurons. For ALS, mesenchymal stem cells and neural progenitor cells have been shown to protect motor neurons and promote recovery in rodent models. Clinical trials are underway injecting neural progenitor cells into the spinal cords of ALS patients. Poliomyelitis destroys motor neurons and can cause paralysis, though vaccines have nearly eradicated it. The document also briefly discusses post-polio syndrome and tabes dorsalis.
Stem cell therapy in neurological disorderNeurologyKota
Stem cell therapy shows promise for treating neurological diseases. Various stem cell sources like embryonic stem cells, induced pluripotent stem cells, and adult neural stem cells can differentiate into neural cells and may be able to replace damaged or dead cells. Clinical trials have been conducted for conditions like Parkinson's disease and stroke with some patients showing improvements, but larger trials are still needed to confirm efficacy and safety. Challenges remain in ensuring stem cells engraft and properly differentiate in the brain.
This document provides an overview of neural stem cells (NSCs). It discusses the location and development of NSCs in the central nervous system. Key cell signaling pathways that regulate NSCs, such as Notch and WNT, are described. Common markers used to identify NSCs are discussed, including Nestin, Sox2, Musashi-1, Pax6, and CD133. Factors that affect the growth and multiplication of NSCs, such as growth factors EGF and FGF, are outlined. Methods for isolating and culturing NSCs are presented. Finally, potential therapeutic applications of NSCs are reviewed, along with some current clinical trials utilizing NSCs.
This document discusses stem cell therapy research for spinal cord injuries. It summarizes that spinal cord injury was the first condition targeted in a human clinical trial using stem cells derived from embryonic stem cells, begun by Geron in 2010 but later cancelled for financial reasons. The trial involved injecting oligodendrocyte progenitor cells (GRNOPC1) into patients' spines 1-2 weeks after injury, which were intended to produce new oligodendrocytes and potentially allow new movement. While stem cell research holds hope, the field is still in its infancy and traditional Chinese herbal medicines have also shown promise in improving locomotor function in rats with spinal cord injuries.
Stem cells show promise for treating various brain and nervous system disorders. Neural stem cells can differentiate into neurons, astrocytes, and oligodendrocytes and may be able to repair injured brain and spinal cord tissue. Preclinical and clinical trials have shown stem cells can restore function in diseases like Parkinson's and stroke. However, challenges remain in optimizing donor sources, ensuring cell viability after transplantation, and developing techniques to integrate cells and reconstruct pathways. Overcoming these challenges could realize stem cells' potential to develop new treatments.
Marc Dhenain Alzforum Webinar - Dec 7, 2016Alzforum
Presentation made at the Alzforum's live webinar of December 5, 2016, titled "Is Alzheimer’s Disease a Uniquely Human Disorder?" - review additional information and recording at www.alzforum.org/
This document describes a study aiming to induce axonal regeneration in retinal ganglion cells through epithelial-mesenchymal transition. The researcher hypothesized that overexpressing epithelial-mesenchymal transition master regulators in retinal ganglion cells through AAV viruses would cause them to regain the ability to grow axons after injury. The experimental design involved cloning master regulators into AAV2 plasmids, transfecting retinal ganglion cells, performing optic nerve crush surgery, and observing axon regeneration. Preliminary results found that master regulators like Twist induced more axonal regeneration compared to controls, indicating the ability to initiate regeneration in senescent tissue.
This document discusses oligodendrocytes, the cells that form myelin in the central nervous system. It describes their role in development, diseases like multiple sclerosis where remyelination fails, and potential therapies to promote remyelination. A clinical trial was conducted using neural progenitor cell transplantation to treat Pelizaeus-Merzbacher disease, a fatal leukodystrophy caused by myelin deficiency. Research suggests the Wnt signaling pathway inhibits oligodendrocyte differentiation and myelination, and a small molecule Wnt inhibitor was found to accelerate remyelination in mice.
Zinc finger nucleases (ZFNs) are engineered restriction enzymes
designed to target specific DNA sequences within the genome.
Assembly of zinc finger DNAbinding domain to a DNA-cleavage
domain.
This document discusses engineering 3D skeletal muscle tissue from induced pluripotent stem cell (iPSC)-derived myogenic cells and biomaterials. The author used human iPSCs differentiated into myogenic progenitors to generate a 3D muscle model. They investigated using a ROCK inhibitor to reduce apoptosis and increase cell density in the 3D culture. The results demonstrate the potential for this muscle engineering platform to be used for disease modeling, personalized drug screening, tissue replacement, and studying myogenesis.
This document summarizes a webinar discussion on a network analysis study of gene expression data from post-mortem brain samples of Alzheimer's disease patients and controls. The study used large sample sizes and extensive clinical characterization to identify gene co-expression modules associated with different brain cell types and Alzheimer's pathology. A microglia module showed increased expression correlated with neurofibrillary tangle burden in controls, suggesting microglia may play an early role in Alzheimer's disease pathogenesis. The top hub gene in this module, TYROBP, has also been found upregulated in tangle-bearing neurons, consistent with microglia involvement in early Alzheimer's disease.
This document summarizes key aspects of neurons and neurotransmission. It describes the basic anatomy of neurons including the cell body, dendrites, and axon. It explains how electrical signals called action potentials are conducted down axons and transmitted across synapses to other neurons. The roles of ion channels and neurotransmitters in generating and transmitting these signals are also outlined. Finally, it provides an overview of supporting glial cells in the brain and peripheral nervous system.
Edgardo J. Arroyo is an Associate Research Scientist at Yale University School of Medicine who has extensive experience researching various aspects of myelin formation, degradation, and regeneration in the central and peripheral nervous systems. His research has focused on elucidating the cellular mechanisms and microanatomy of neuron-glial interactions using techniques such as immunohistochemistry, confocal microscopy, and biochemistry. He has studied topics such as the effects of spinal cord injury, stem cell transplantation, sodium channel expression after nerve damage, and how demyelination affects the molecular organization of nodes of Ranvier.
Stem cell Therapy in Neurological diseases Ibad khan
Stem cells can differentiate into various cell types and divide to produce more stem cells. There are two main types: embryonic stem cells from fertilized eggs and adult stem cells found in tissues. Stem cells are important for potential treatments as they can generate large numbers of cells from a limited source and may be obtained from patients. While embryonic stem cells show potential for treating conditions, their safety requires further investigation. Adult stem cells are used in therapies like bone marrow transplantation. Stem cell transplantation faces challenges like preventing scar tissue formation and ensuring proper differentiation and integration into host circuits.
1. The document discusses how trigger mechanisms in cell division provide quality control by monitoring nuclear structure and delaying cell division if not correct.
2. It also discusses how unnatural genes designed in a lab can be used to replace missing DNA in cells to keep them alive by fixing mutations.
3. Introducing these artificial DNA sequences allowed previously non-viable E. coli cells to survive, demonstrating how engineered genes can rescue cells.
Neuronal and glial differentiation of human pluripotent stem cellsDiana Santos
This document summarizes research on differentiating human pluripotent stem cells into neuronal and glial cells. It discusses protocols for generating several neural cell types, including dopaminergic neurons, motor neurons, GABAergic neurons, cholinergic neurons, retinal cells, and oligodendrocytes. These differentiation techniques aim to provide functional cells for applications in disease modeling, drug discovery, and regenerative medicine for conditions like Parkinson's, ALS, retinal degeneration, and multiple sclerosis. However, improving differentiation efficiency and safety is still needed, especially for induced pluripotent stem cells.
The accelerated clinical course of prion disease in mice compromised in repair of oxidative DNA damage. The study observed the progression of experimental prion disease in mice with compromised DNA repair capacity. Mice either lacking or overexpressing DNA repair genes were inoculated with prions and monitored. Increased PrPsc deposits and earlier symptoms were seen in mice with DNA repair deficiencies, showing oxidative DNA damage may contribute to faster prion disease progression.
The document discusses a study examining the progression of experimental prion disease in mice with compromised DNA repair capacity. The study found that mice lacking genes responsible for repairing oxidative DNA damage developed prion disease at an accelerated clinical course compared to wildtype mice. This suggests oxidative DNA damage contributes to prion disease pathogenesis. The study analyzed levels of disease-associated prion protein and markers of neurodegeneration in brain tissue over time between the two mouse models.
Epigenetic memory the lamarckian brain embj.201387637.fullElsa von Licy
This document summarizes recent research on the role of epigenetic processes like histone modifications and DNA methylation in memory formation and brain diseases. It discusses how histone acetylation and deacetylation by histone acetyltransferases and histone deacetylases are involved in memory consolidation. Studies in rodents show that inhibiting HDACs enhances memory formation, while reducing the activity of the HAT CBP impairs memory. The review also discusses how chromatin immunoprecipitation followed by sequencing is providing more detailed insights into histone modifications and gene expression changes involved in learning and memory processes and diseases like Alzheimer's.
This document discusses the multifunctional roles of antimicrobial polypeptides in innate immunity. While initially studied for their antibacterial properties, these polypeptides are now recognized to have diverse inflammatory and immunomodulatory functions. For example, the cathelicidin LL-37/hCAP-18 induces angiogenesis in addition to its antimicrobial activity. The discovery of additional functions raises new questions about using these polypeptides therapeutically given their potential effects on multiple biological pathways. Defining their precise roles in vivo remains an ongoing challenge due to the complex interplay of factors in natural infections.
This document provides an overview and discussion of refractory status epilepticus (RSE) and non-convulsive status epilepticus (NCSE). It defines these conditions and reviews their clinical characteristics, pathophysiology, treatment options including antiepileptic drugs, anesthesia, surgery, hypothermia and immunotherapy. It examines factors that influence prognosis and outcomes such as etiology, age, seizure duration and EEG findings. It suggests RSE treatment should be guided by etiology, duration of seizures and EEG characteristics as these most influence patient prognosis and recovery.
Guided notes covering material from Topic 3.1 of the updated IB Biology syllabus for 2016 exams. Notes sequence and prompts are based on the Oxford IB Biology textbook by Allott and Mindorff.
Using next generation sequencing, researchers identified the genetic mutations causing Leber's congenital amaurosis (LCA) in a patient. They found the patient had two severe mutations in the RPGRIP1 gene, which is known to cause LCA. The mutations were inherited in an autosomal recessive pattern from the patient's mother and father, who each carried one mutated copy of the gene. Identifying the specific genetic cause of the patient's LCA provides insights that could help develop future therapies to treat this blindness-causing condition.
This presentation briefly describes the involvement of epigenetic mechanisms in Parkinson's disease and their potential role in regulating disease progression
This document discusses the pathogenesis and diagnosis of schizophrenia from the perspective of mitochondrial dysfunction and nonlinear dynamics analysis. It summarizes that:
1) Schizophrenia is thought to result from an interplay between genetic and environmental factors that disrupt brain development, and recent research implicates mitochondrial dysfunction caused by disruption of multiple genes.
2) Studies using nonlinear dynamics analysis of EEG signals and other data have found reduced complexity and more linear/regular rhythms in schizophrenia patients compared to controls, indicating lower chaotic dynamics.
3) Quantum biophysical semeiotics clinical evaluation techniques can detect an inherited real risk of schizophrenia even in asymptomatic individuals by examining microvascular function and complexity of oscillations. This allows for early pre-clinical diagnosis
general information regarding single nucleotide polymorphism.
A Single Nucleotide Polymorphisms (SNP), pronounced “snip,” is a genetic variation when a single nucleotide (i.e., A, T, C, or G) is altered and kept through heredity.
This document summarizes a study that aimed to investigate the effects of JQ1, a molecule that inhibits BET proteins, on contrast-induced acute kidney injury (CI-AKI). The study used methods like immunofluorescent staining, quantitative real-time PCR, Western blot, and cell viability analysis to examine the impact of JQ1 on autophagy and inflammation pathways in kidney tissue and cells. The results showed that JQ1 protected against tubular injury and apoptosis in the kidney. By understanding how JQ1 works at a molecular level, the study provides insights into the cellular mechanisms of CI-AKI and a foundation for developing targeted therapies.
Genotype Phenotype Correlation In Prader Willi SyndromeMihaiela Fazacas
The document summarizes research on the genotype-phenotype correlations in Prader-Willi syndrome (PWS). PWS is caused by deficiencies in imprinted genes on chromosome 15q11-q13 inherited maternally. The main genetic mechanisms are deletions, uniparental disomy, and imprinting defects. Research shows correlations between genetic subtypes and characteristics like cognitive abilities, behaviors, growth patterns, and other health issues. However, some characteristics like sleep disorders do not differ by genetic subtype. Further research is still needed to understand the functions of implicated genes and their relationships to PWS phenotypes.
This document discusses network biology and text mining of large datasets to analyze protein and medical networks. It describes using techniques like named entity recognition, information extraction, and natural language processing on text corpora with millions of abstracts and articles to identify relationships between genes, proteins, and medical entities. The text also discusses using these methods to analyze protein interaction and medical diagnosis trajectory data to gain biological and medical insights.
The document discusses the debate around the relative influence of genetics and environment on malocclusion. It states that while genetic mechanisms are predominant, environment can also influence facial morphology after birth. Determining the etiology of malocclusions requires differentiating the effects of genes and environment in an individual. However, our current understanding is limited by lack of knowledge about genetic mechanisms controlling growth and evidence for environmental influences.
This document summarizes a study on developing a novel protein interaction platform to study neurodegeneration. The study cultured neuronal stem cells to form neurospheres, which were used as a model system. Lentiviral transfection was optimized to introduce target genes stably into the neurospheres. The goal was to analyze protein interactions of Alzheimer's disease proteins by co-immunoprecipitation of neurosphere cultures expressing tagged target proteins. This model aims to further the understanding of molecular mechanisms in neurodegenerative disorders like Alzheimer's disease.
Cell-Replacement Therapy with Stem Cells in Neurodegenerative DiseasesSararajputsa
This document summarizes research on using stem cell transplantation as a potential therapy for neurodegenerative diseases like Amyotrophic Lateral Sclerosis (ALS). It discusses how stem cell transplantation has shown effectiveness in animal models of ALS through mechanisms like cell replacement, neurotrophic factor release, and endogenous stem cell proliferation. Early clinical trials transplanting stem cells into ALS patients showed feasibility and no severe side effects. However, more research is still needed to fully understand stem cell mechanisms and maximize their therapeutic potential for neurodegenerative diseases.
This study found that flies expressing the human amyloid-b peptide (Ab42) in neurons exhibited significantly reduced consolidated sleep compared to control flies. When these Ab42 flies also expressed either the Drosophila or mammalian fatty acid binding protein (Fabp) transgene, they showed a significant increase in nighttime sleep and longer consolidated sleep bouts, rescuing the sleep disruption caused by Ab42. This suggests that Ab42 expression alone can disrupt sleep consolidation, and that Fabp expression may help mitigate Ab42-induced sleep disturbances, as seen in Alzheimer's disease patients. Understanding these relationships between Ab42, Fabp, and sleep could aid in developing therapies to delay Alzheimer's disease progression.
The document discusses the role of genetics in bipolar disorder based on literature. It finds that genetics and heredity play an important role based on family and twin studies showing higher prevalence of bipolar disorder in relatives. The focus has shifted from whether genetics plays a role to identifying specific genes that may contribute to onset or protection against bipolar disorder, such as genes related to glutamate receptors and calcium signaling. Research uses genome-wide association studies and identifies several candidate genes and gene variants, though the mechanisms are not fully understood and likely involve multiple genetic factors.
This study aimed to establish if genistein-3'-sodium sulfonate (GSS), an isoflavone compound extracted from plants, could be used to treat or prevent neonatal hypoxic-ischemic encephalopathy (HIE), which is brain damage caused by lack of oxygen and blood flow. The study used techniques like RNA sequencing, Fluoro Jade C staining, immunofluorescence, and Western blotting to evaluate the effects of GSS on brain tissue at a molecular level and detect degenerating neurons. Results and discussions referenced increased neuronal apoptosis, complement C3 accumulation, and cathepsin Z expression as pathological processes in HIE that GSS may help with due to its neuroprotective properties seen in other
This study examines changes in dendritic branching and spines in the frontal, temporal, and parietal cortex from individuals diagnosed as non-cognitively impaired (NCI), with mild cognitive impairment (MCI), or with Alzheimer's disease (AD). Brain tissue was analyzed using the Golgi impregnation method to quantify dendritic branching and spines. Results showed each cortical region had distinct patterns of dendritic changes from NCI to MCI to AD. The temporal cortex saw a 20% loss of branching in MCI and a further 5% loss in AD. The parietal cortex had a mild 4% loss in MCI and a 10% loss in AD. In contrast, the frontal cortex showed a
Similar to Protein-RNA Complexes, ALS and Aging (20)
First Identification of Role TMEM106B in FTDAlzforum
Presentation made by Rosa Rademakers on the 20th of April, 2017, at the live webinar hosted by Alzforum: http://www.alzforum.org/webinars/webinar-cortex-aging-too-fast-blame-tmem106b-and-progranulin
Presentation made by Tony Wyss-Coray on the 20th of April, 2017, at the live webinar hosted by Alzforum: http://www.alzforum.org/webinars/webinar-cortex-aging-too-fast-blame-tmem106b-and-progranulin
Peter Nelson Alzforum Webinar - Dec 7, 2016Alzforum
Presentation made at the Alzforum's live webinar of December 5, 2016, titled "Is Alzheimer’s Disease a Uniquely Human Disorder?" - review additional information and recording at www.alzforum.org/
Elizabeth Head Alzforum Webinar - Dec 7, 2016Alzforum
Presentation made at the Alzforum's live webinar of December 5, 2016, titled "Is Alzheimer’s Disease a Uniquely Human Disorder?" - review additional information and recording at www.alzforum.org/
Patrick Hof Alzforum Webinar - Dec 7, 2016Alzforum
Presentation made at the Alzforum's live webinar of December 5, 2016, titled "Is Alzheimer’s Disease a Uniquely Human Disorder?" - review additional information and recording at www.alzforum.org/
Presentation made at the Alzforum's live webinar of December 5, 2016, titled "Is Alzheimer’s Disease a Uniquely Human Disorder?" - review additional information and recording at www.alzforum.org/
Bob Olsson - Alzforum Live Webinar April 29, 2016Alzforum
This document summarizes information from the AlzBiomarker Database on biomarkers for Alzheimer's disease (AD). It describes the large variation seen in biomarker levels between labs, batches, and assays. It then lists various biomarkers related to neurodegeneration, amyloid-beta metabolism, tau tangles, blood-brain barrier function, and glial activation. The inclusion and exclusion criteria for studies in the database are provided. The database contains over 150 comparisons of biomarkers like tau, phospho-tau, and amyloid-beta 42 in the cerebrospinal fluid of AD patients versus controls and mild cognitive impairment patients who progressed to AD versus those who remained stable.
Presentation made at the live webinar of April 8, 2016 hosted by Alzforum - http://www.alzforum.org/webinars/webinar-pathogenic-protein-spread-lets-think-again
Dominic Walsh - A Critical Appraisal of the Pathogenic Protein Spread Hypothe...Alzforum
Presentation made April 8, 2016 at the live webinar hosted by Alzforum - http://www.alzforum.org/webinars/webinar-pathogenic-protein-spread-lets-think-again
Presentation made April 8, 2016 at the live webinar hosted by Alzforum - http://www.alzforum.org/webinars/webinar-pathogenic-protein-spread-lets-think-again
Patrik Brundin - Are Synucleinopathies Prion Diseases?Alzforum
Presentation made April 8, 2016 at the live webinar hosted by Alzforum - http://www.alzforum.org/webinars/webinar-pathogenic-protein-spread-lets-think-again
Virginia Lee - Cell-to-Cell Spread of Pathological TauAlzforum
Presentation made April 8, 2016 at the live webinar hosted by Alzforum - http://www.alzforum.org/webinars/webinar-pathogenic-protein-spread-lets-think-again
Presentation made by Dr. Cliff Brangwynne on October 30, 2015 at the Alzforum-hosted live webinar titled "Fluid Business: Could “Liquid” Protein Herald Neurodegeneration?"
More information and the recording of the session available at http://www.alzforum.org/webinars/fluid-business-could-liquid-protein-herald-neurodegeneration
Presentation made by Dr. Paul Taylor on October 30, 2015 at the Alzforum-hosted live webinar titled "Fluid Business: Could “Liquid” Protein Herald Neurodegeneration?"
More information and the recording of the session available at http://www.alzforum.org/webinars/fluid-business-could-liquid-protein-herald-neurodegeneration
Presentation made by Dr. Markus Zweckstetter on October 30, 2015 at the Alzforum-hosted live webinar titled "Fluid Business: Could “Liquid” Protein Herald Neurodegeneration?"
More information and the recording of the session available at http://www.alzforum.org/webinars/fluid-business-could-liquid-protein-herald-neurodegeneration
Presentation made by Dr. Simon Alberti on October 30, 2015 at the Alzforum-hosted live webinar titled "Fluid Business: Could “Liquid” Protein Herald Neurodegeneration?"
More information and the recording of the session available at http://www.alzforum.org/webinars/fluid-business-could-liquid-protein-herald-neurodegeneration
The skin is the largest organ and its health plays a vital role among the other sense organs. The skin concerns like acne breakout, psoriasis, or anything similar along the lines, finding a qualified and experienced dermatologist becomes paramount.
5-hydroxytryptamine or 5-HT or Serotonin is a neurotransmitter that serves a range of roles in the human body. It is sometimes referred to as the happy chemical since it promotes overall well-being and happiness.
It is mostly found in the brain, intestines, and blood platelets.
5-HT is utilised to transport messages between nerve cells, is known to be involved in smooth muscle contraction, and adds to overall well-being and pleasure, among other benefits. 5-HT regulates the body's sleep-wake cycles and internal clock by acting as a precursor to melatonin.
It is hypothesised to regulate hunger, emotions, motor, cognitive, and autonomic processes.
Discover the benefits of homeopathic medicine for irregular periods with our guide on 5 common remedies. Learn how these natural treatments can help regulate menstrual cycles and improve overall menstrual health.
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Computer in pharmaceutical research and development-Mpharm(Pharmaceutics)MuskanShingari
Statistics- Statistics is the science of collecting, organizing, presenting, analyzing and interpreting numerical data to assist in making more effective decisions.
A statistics is a measure which is used to estimate the population parameter
Parameters-It is used to describe the properties of an entire population.
Examples-Measures of central tendency Dispersion, Variance, Standard Deviation (SD), Absolute Error, Mean Absolute Error (MAE), Eigen Value
- Video recording of this lecture in English language: https://youtu.be/Pt1nA32sdHQ
- Video recording of this lecture in Arabic language: https://youtu.be/uFdc9F0rlP0
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
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Travel vaccination in Manchester offers comprehensive immunization services for individuals planning international trips. Expert healthcare providers administer vaccines tailored to your destination, ensuring you stay protected against various diseases. Conveniently located clinics and flexible appointment options make it easy to get the necessary shots before your journey. Stay healthy and travel with confidence by getting vaccinated in Manchester. Visit us: www.nxhealthcare.co.uk
Summer is a time for fun in the sun, but the heat and humidity can also wreak havoc on your skin. From itchy rashes to unwanted pigmentation, several skin conditions become more prevalent during these warmer months.
“Psychiatry and the Humanities”: An Innovative Course at the University of Mo...Université de Montréal
“Psychiatry and the Humanities”: An Innovative Course at the University of Montreal Expanding the medical model to embrace the humanities. Link: https://www.psychiatrictimes.com/view/-psychiatry-and-the-humanities-an-innovative-course-at-the-university-of-montreal
Travel Clinic Cardiff: Health Advice for International TravelersNX Healthcare
Travel Clinic Cardiff offers comprehensive travel health services, including vaccinations, travel advice, and preventive care for international travelers. Our expert team ensures you are well-prepared and protected for your journey, providing personalized consultations tailored to your destination. Conveniently located in Cardiff, we help you travel with confidence and peace of mind. Visit us: www.nxhealthcare.co.uk
7. Soreq et al., Cell Rep, 2017
Analysis of cell-type specific gene expression upon aging
8. Soreq et al., Cell Rep, 2017
Shifts in regional expression profiles of glia-specific genes upon aging
9. Summary
Analysis of splicing changes revealed a common component of aging and neurodegeneration
Dramatic decrease of neuron-specific genes is a hallmark of neurodegeneration (as expected)
Distinct changes in cell type-specific expression profiles are a hallmark of aging
Microglia-specific genes increase, and neuron-specific genes slightly decrease their expression
Astrocyte and oligodendrocyte-specific genes shift their regional expression patterns
10. Cell-type specific gene patterns in aging
Mina Ryten, John Hardy,
UK Brain Expression Consortium
James Rose, Colin Smith,
University of Edinburg
Lilach
Soreq
Rickie
Patani
Chris Shaw
KCL, London
James Tollervey
Aging & TDP-43 in ALS