Amino acid metabolism disorders are hereditary metabolic disorders. Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children. Amino acids are the building blocks of proteins and have many functions in the body. Hereditary disorders of amino acid processing (metabolism) can result from defects either in the breakdown of amino acids or in the body’s ability to get amino acids into cells.
Protein which are major component of our diet have amino acid as their precursor and also act as important energy source. Any imbalance in the metabolism of these amino acid cause disorders
Protein which are major component of our diet have amino acid as their precursor and also act as important energy source. Any imbalance in the metabolism of these amino acid cause disorders
Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine.
Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may have dark urine or urine that turns black when exposed to air.
Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and others) in blood and urine. Normally, these metabolites are not found in appreciable quantities in blood or urine.
AMINO ACID METABOLISM DISORDERS Twenty amino acids, including nine that cannot be synthesized in humans and must be obtained through food, are involved in metabolism. Amino acids are the building blocks of proteins; some also function as or are synthesized into important molecules in the body such as neurotransmitters, hormones, pigments and oxygen-carrying molecules.
Inborn errors of metabolism
Definition:- These are a group of rare genetic disorders in which the body cannot metabolize food components normally.
These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down very essential biochemical components.
Inborn errors of amino acid metabolismRamesh Gupta
Inherited disorders of amino acid metabolism e.g. phenylketonuria, maple syrup urine disease, alkaptonuria, homocystinuria, Hartnup disease etc for medical, biochemistry and biology undergraduates
MSUD is metabolic genetic error . It happens due to lack of an enzyem that degrades specific amino acids
Homocystinuria is also a metbolic genetic error due to an enzyme defficiency it leads to an accumulation of homocystein and related chemical in the blood
Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine.
Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may have dark urine or urine that turns black when exposed to air.
Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and others) in blood and urine. Normally, these metabolites are not found in appreciable quantities in blood or urine.
AMINO ACID METABOLISM DISORDERS Twenty amino acids, including nine that cannot be synthesized in humans and must be obtained through food, are involved in metabolism. Amino acids are the building blocks of proteins; some also function as or are synthesized into important molecules in the body such as neurotransmitters, hormones, pigments and oxygen-carrying molecules.
Inborn errors of metabolism
Definition:- These are a group of rare genetic disorders in which the body cannot metabolize food components normally.
These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down very essential biochemical components.
Inborn errors of amino acid metabolismRamesh Gupta
Inherited disorders of amino acid metabolism e.g. phenylketonuria, maple syrup urine disease, alkaptonuria, homocystinuria, Hartnup disease etc for medical, biochemistry and biology undergraduates
MSUD is metabolic genetic error . It happens due to lack of an enzyem that degrades specific amino acids
Homocystinuria is also a metbolic genetic error due to an enzyme defficiency it leads to an accumulation of homocystein and related chemical in the blood
inborn errors of metabolism. Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food
designed for undergraduate level teaching of nitrogen metabolism focusing on amino acid metabolism in biochemistry. this is third in the series of three lectures. ideal for MBBS level teaching
IEM comprise a group of disorders in which a single gene defect causes a clinically significant block in a metabolic pathway resulting either in accumulation of substrate behind the block or deficiency of the product.
designed for undergraduate level teaching of nitrogen metabolism focusing on amino acid metabolism in biochemistry. this is second in the series of three lectures. ideal for MBBS level teaching
Microcirculation and Capillary exchangeEvelinJoseph4
The microcirculation refers to the smallest blood vessels in the body: the smallest arterioles, the metarterioles, the precapillary sphincters, the capillaries,the small venules.
Capillary exchange refers to the exchange of material between the blood and tissues in the capillaries.
RNA splicing is a form of RNA processing in which a newly made precursor messenger RNA (mRNA) is transformed into a mature RNA by removing the non-coding sequences termed introns.
The process of RNA splicing involves the removal of non-coding sequences or introns and joining of the coding sequences or exons.
RNA splicing takes place during or immediately after transcription within the nucleus in the case of nucleus-encoded genes.
In eukaryotic cells, RNA splicing is crucial as it ensures that an immature RNA molecule is converted into a mature molecule that can then be translated into proteins. The post-transcriptional modification is not necessary for prokaryotic cells.
Eukaryotic DNA replication is a conserved mechanism that restricts DNA replication to once per cell cycle. Eukaryotic DNA replication of chromosomal DNA is central for the duplication of a cell and is necessary for the maintenance of the eukaryotic genome.
DNA replication in eukaryotes occurs in three stages: initiation, elongation, and termination, which are aided by several enzymes. Because eukaryotic genomes are quite
complex, DNA replication is a very complicated process that involves several enzymes and other proteins. It occurs in three main stages: initiation, elongation, and termination.
Charles Overton was the first one to suggest that cell membrane is made up of lipids. In the last years of the 19th century Overton did experimental work, allowing the distinction to be drawn between the cell wall of plants and their cytoplasmic membrane.He studied the permeability of a range of biological
materials to around 500 chemical compounds. In 1900, Overton proposed a biomembrane model "Overton Biomembrane Model" which stated that biomembranes are made up of lipids. He gave this statement on the basis of observation of transport of lipid soluble substances across the biomembranes.
Fatty acid β-oxidation is the process by which fatty acids are broken down to produce energy. Fatty acids primarily enter a cell via fatty acid protein transporters on the cell surface. Once inside, FACS adds a CoA group to the fatty acid. CPT1 then converts the long-chain acyl-CoA to long-chain acylcarnitine.
THE IMPORTANCE OF MARTIAN ATMOSPHERE SAMPLE RETURN.Sérgio Sacani
The return of a sample of near-surface atmosphere from Mars would facilitate answers to several first-order science questions surrounding the formation and evolution of the planet. One of the important aspects of terrestrial planet formation in general is the role that primary atmospheres played in influencing the chemistry and structure of the planets and their antecedents. Studies of the martian atmosphere can be used to investigate the role of a primary atmosphere in its history. Atmosphere samples would also inform our understanding of the near-surface chemistry of the planet, and ultimately the prospects for life. High-precision isotopic analyses of constituent gases are needed to address these questions, requiring that the analyses are made on returned samples rather than in situ.
Richard's entangled aventures in wonderlandRichard Gill
Since the loophole-free Bell experiments of 2020 and the Nobel prizes in physics of 2022, critics of Bell's work have retreated to the fortress of super-determinism. Now, super-determinism is a derogatory word - it just means "determinism". Palmer, Hance and Hossenfelder argue that quantum mechanics and determinism are not incompatible, using a sophisticated mathematical construction based on a subtle thinning of allowed states and measurements in quantum mechanics, such that what is left appears to make Bell's argument fail, without altering the empirical predictions of quantum mechanics. I think however that it is a smoke screen, and the slogan "lost in math" comes to my mind. I will discuss some other recent disproofs of Bell's theorem using the language of causality based on causal graphs. Causal thinking is also central to law and justice. I will mention surprising connections to my work on serial killer nurse cases, in particular the Dutch case of Lucia de Berk and the current UK case of Lucy Letby.
Professional air quality monitoring systems provide immediate, on-site data for analysis, compliance, and decision-making.
Monitor common gases, weather parameters, particulates.
Cancer cell metabolism: special Reference to Lactate PathwayAADYARAJPANDEY1
Normal Cell Metabolism:
Cellular respiration describes the series of steps that cells use to break down sugar and other chemicals to get the energy we need to function.
Energy is stored in the bonds of glucose and when glucose is broken down, much of that energy is released.
Cell utilize energy in the form of ATP.
The first step of respiration is called glycolysis. In a series of steps, glycolysis breaks glucose into two smaller molecules - a chemical called pyruvate. A small amount of ATP is formed during this process.
Most healthy cells continue the breakdown in a second process, called the Kreb's cycle. The Kreb's cycle allows cells to “burn” the pyruvates made in glycolysis to get more ATP.
The last step in the breakdown of glucose is called oxidative phosphorylation (Ox-Phos).
It takes place in specialized cell structures called mitochondria. This process produces a large amount of ATP. Importantly, cells need oxygen to complete oxidative phosphorylation.
If a cell completes only glycolysis, only 2 molecules of ATP are made per glucose. However, if the cell completes the entire respiration process (glycolysis - Kreb's - oxidative phosphorylation), about 36 molecules of ATP are created, giving it much more energy to use.
IN CANCER CELL:
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
introduction to WARBERG PHENOMENA:
WARBURG EFFECT Usually, cancer cells are highly glycolytic (glucose addiction) and take up more glucose than do normal cells from outside.
Otto Heinrich Warburg (; 8 October 1883 – 1 August 1970) In 1931 was awarded the Nobel Prize in Physiology for his "discovery of the nature and mode of action of the respiratory enzyme.
WARNBURG EFFECT : cancer cells under aerobic (well-oxygenated) conditions to metabolize glucose to lactate (aerobic glycolysis) is known as the Warburg effect. Warburg made the observation that tumor slices consume glucose and secrete lactate at a higher rate than normal tissues.
Slide 1: Title Slide
Extrachromosomal Inheritance
Slide 2: Introduction to Extrachromosomal Inheritance
Definition: Extrachromosomal inheritance refers to the transmission of genetic material that is not found within the nucleus.
Key Components: Involves genes located in mitochondria, chloroplasts, and plasmids.
Slide 3: Mitochondrial Inheritance
Mitochondria: Organelles responsible for energy production.
Mitochondrial DNA (mtDNA): Circular DNA molecule found in mitochondria.
Inheritance Pattern: Maternally inherited, meaning it is passed from mothers to all their offspring.
Diseases: Examples include Leber’s hereditary optic neuropathy (LHON) and mitochondrial myopathy.
Slide 4: Chloroplast Inheritance
Chloroplasts: Organelles responsible for photosynthesis in plants.
Chloroplast DNA (cpDNA): Circular DNA molecule found in chloroplasts.
Inheritance Pattern: Often maternally inherited in most plants, but can vary in some species.
Examples: Variegation in plants, where leaf color patterns are determined by chloroplast DNA.
Slide 5: Plasmid Inheritance
Plasmids: Small, circular DNA molecules found in bacteria and some eukaryotes.
Features: Can carry antibiotic resistance genes and can be transferred between cells through processes like conjugation.
Significance: Important in biotechnology for gene cloning and genetic engineering.
Slide 6: Mechanisms of Extrachromosomal Inheritance
Non-Mendelian Patterns: Do not follow Mendel’s laws of inheritance.
Cytoplasmic Segregation: During cell division, organelles like mitochondria and chloroplasts are randomly distributed to daughter cells.
Heteroplasmy: Presence of more than one type of organellar genome within a cell, leading to variation in expression.
Slide 7: Examples of Extrachromosomal Inheritance
Four O’clock Plant (Mirabilis jalapa): Shows variegated leaves due to different cpDNA in leaf cells.
Petite Mutants in Yeast: Result from mutations in mitochondrial DNA affecting respiration.
Slide 8: Importance of Extrachromosomal Inheritance
Evolution: Provides insight into the evolution of eukaryotic cells.
Medicine: Understanding mitochondrial inheritance helps in diagnosing and treating mitochondrial diseases.
Agriculture: Chloroplast inheritance can be used in plant breeding and genetic modification.
Slide 9: Recent Research and Advances
Gene Editing: Techniques like CRISPR-Cas9 are being used to edit mitochondrial and chloroplast DNA.
Therapies: Development of mitochondrial replacement therapy (MRT) for preventing mitochondrial diseases.
Slide 10: Conclusion
Summary: Extrachromosomal inheritance involves the transmission of genetic material outside the nucleus and plays a crucial role in genetics, medicine, and biotechnology.
Future Directions: Continued research and technological advancements hold promise for new treatments and applications.
Slide 11: Questions and Discussion
Invite Audience: Open the floor for any questions or further discussion on the topic.
(May 29th, 2024) Advancements in Intravital Microscopy- Insights for Preclini...Scintica Instrumentation
Intravital microscopy (IVM) is a powerful tool utilized to study cellular behavior over time and space in vivo. Much of our understanding of cell biology has been accomplished using various in vitro and ex vivo methods; however, these studies do not necessarily reflect the natural dynamics of biological processes. Unlike traditional cell culture or fixed tissue imaging, IVM allows for the ultra-fast high-resolution imaging of cellular processes over time and space and were studied in its natural environment. Real-time visualization of biological processes in the context of an intact organism helps maintain physiological relevance and provide insights into the progression of disease, response to treatments or developmental processes.
In this webinar we give an overview of advanced applications of the IVM system in preclinical research. IVIM technology is a provider of all-in-one intravital microscopy systems and solutions optimized for in vivo imaging of live animal models at sub-micron resolution. The system’s unique features and user-friendly software enables researchers to probe fast dynamic biological processes such as immune cell tracking, cell-cell interaction as well as vascularization and tumor metastasis with exceptional detail. This webinar will also give an overview of IVM being utilized in drug development, offering a view into the intricate interaction between drugs/nanoparticles and tissues in vivo and allows for the evaluation of therapeutic intervention in a variety of tissues and organs. This interdisciplinary collaboration continues to drive the advancements of novel therapeutic strategies.
1. METOBOLISM OF AMINO ACIDS AND
NUCLEIC ACIDS
TOPIC: DISORDERS OF AMINO ACID METABOLISM
SUBMITTED BY:
EVELIN GEORGE
19BCUOO6
2ND
Bsc, BIOCHEMISTRY
2. DISORDERS OF AMINO ACID METABOLISM
INTRODUCTION
Twenty amino acids, including nine that cannot be synthesized in humans and
must be obtained through food, are involved in metabolism. Amino acids are
the building blocks of proteins; some also function as or are synthesized into
important molecules in the body such as neurotransmitters, hormones,
pigments, and oxygen-carrying molecules.
CONTENT
Amino acid metabolism disorders are hereditary metabolic disorders.
Hereditary disorders occur when parents pass the defective genes that cause
these disorders on to their children. Amino acids are the building blocks of
proteins and have many functions in the body. Hereditary disorders of amino
acid processing (metabolism) can result from defects either in the breakdown
of amino acids or in the body’s ability to get amino acids into cells.
Disorders that affect the metabolism of amino acids include:
Phenylketonuria,
Tyrosinemia,
Homocystinuria,
Non-ketotic hyperglycinemia, and
Maple syrup urine disease.
These disorders are autosomal recessive, and all may be diagnosed by
analyzing amino acid concentrations in body fluids.
3. DISORDERS
PHENYLKETONURIA
Phenylketonuria (PKU) is caused by decreased activity of phenylalanine
hydroxylase (PAH), an enzyme that converts the amino
acid phenylalanine to tyrosine, a precursor of several important hormones and
skin, hair, and eye pigments. Decreased PAH activity results in accumulation of
phenylalanine and a decreased amount of tyrosine and other metabolites.
Persistent high levels of phenylalanine in the blood in turn result in progressive
developmental delay, a small head circumference, behaviour disturbances, and
seizures.
Due to a decreased amount of the pigment melanin, persons with PKU tend
to have lighter features, such as blond hair and blue eyes, than other family
members who do not have the disease. Treatment with special formulas and
with foods low in phenylalanine and protein can reduce phenylalanine levels to
normal and maintain normal intelligence. However, rare cases of PKU that
result from impaired metabolism of biopterin, an essential cofactor in the
phenylalanine hydroxylase reaction, may not consistently respond to therapy.
4. TYROSINEMIA
Classic (hepatorenal or type I) tyrosinemia is caused by a deficiency of
fumarylacetoacetate hydrolase (FAH), the last enzyme in tyrosine catabolism.
Features of classic tyrosinemia include severe liver disease, unsatisfactory
weight gain, peripheral nerve disease, and kidney defects. Approximately 40
percent of persons with the disorder develop liver cancer by the age of 5 if
untreated.
Tyrosinemia or tyrosinaemia is an error of metabolism, usually inborn, in
which the body cannot effectively break down the amino acid tyrosine.
Symptoms of untreated tyrosinemia include liver and kidney disturbances.
Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione
(NTBC), a potent inhibitor of the tyrosine catabolic pathway, prevents the
production of toxic metabolites. Although this leads to improvement of liver,
kidney, and neurological symptoms, the occurrence of liver cancer may not be
prevented. Liver transplantation may be required for severe liver disease or if
cancer develops. A benign, transient neonatal form of tyrosinemia, responsive
to protein restriction and vitamin C therapy, also exists.
5. HOMOCYSTINURIA
Homocystinuria is caused by a defect in cystathionine beta-synthase (or β-
synthase), an enzyme that participates in the metabolism of methionine,
which leads to an accumulation of homocysteine. Symptoms include a
pronounced flush of the cheeks, a tall, thin frame, lens dislocation, vascular
disease, and thinning of the bones (osteoporosis).
Intellectual disability and psychiatric disorders also may be present.
Approximately 50 percent of persons with homocystinuria are responsive to
treatment with vitamin B6 (pyridoxine), and these individuals tend to have a
better intellectual prognosis. Therapy with folic acid, betaine (a medication
that removes extra homocysteine from the body), aspirin, and dietary
restriction of protein and methionine also may be of benefit.
6. NON-KETOTIC HYPERGLYCINEMIA
Non-ketotic hyperglycinemia (NKH) is a rare, genetic, metabolic disorder
caused by a defect in the enzyme system that breaks down the amino acid
glycine, resulting in an accumulation of glycine in the body's tissues and fluids.
There is a classical form of NKH and a variant form of NKH.
Non-ketotic hyperglycinemia is characterized by seizures, low muscle tone,
hiccups, breath holding, and severe developmental impairment. It is caused by
elevated levels of the neurotransmitter glycine in the central nervous system,
which in turn are caused by a defect in the enzyme system responsible
for cleaving the amino acid glycine. Drugs that block the action of glycine (e.g.,
dextromethorphan), a low-protein diet, and glycine-scavenging medications
(e.g., sodium benzoate) may ease symptoms, but there is no cure for this
severe condition.
7. MAPLE SYRUP URINE DISEASE
Maple syrup urine disease (MSUD) is a disorder of branched-chain amino
acid metabolism that leads to the accumulation of leucine, isoleucine, valine
and their corresponding oxoacids in body fluids—one result being a
characteristic maple syrup smell to the urine of some patients.
The disorder is common in the Mennonites of Pennsylvania. The classic form
of MSUD presents in infancy with lethargy and progressive neurological
deterioration characterized by seizures and coma. Unlike most organic
acidemias, prominent acidemia is rare. Treatment involves restricting proteins
and feeding with formulas deficient in the branched-chain amino acids. Persons
with MSUD may have intellectual disability despite therapy, but early and
careful treatment can result in normal intellectual development. Milder forms
of MSUD may be treated with simple protein restriction or administration of
thiamin (vitamin B1).
REFERENCE:
WEBSITE OF BYJU’S AND BRITANICA’S
BOOKS OF LEHNIGNER AND SATYANARAYANA