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Lecture 35 Genetics - Biochemical and Mitochondria Genetics

Lecture 35 Genetics - Biochemical and Mitochondria Genetics...

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Describe effect of mutation on protein function Describe effect of a mutation on metabolism: examples Describe the principles of mitochondrial genetics Vocab: Enzyme Inborn error of metabolism Compound heteroxygote Replicative segregation Heteroplasmy Maternal inheritance Outline: - History and principles of biochemical genetics - Phenylketonuria o example of a biochemical genetic diseases - Introduction to newborn screening - Mitochondrial genetics o overview and introduction to key concepts o MERRF = example of mitochondrial disease o introduction to mitochondrial dynamics - Overview of the practice of medical genetics - Metabolism o The total of all biochemical reactions necessary to sustain life in the body o Enzymes are necessary catalysts for these reactions to occur o Deficiency of any one enzyme activity may disrupt normal metabolism - Alkaptonuria = first metabolic disorder suggested to be inherited o Archiblad Garrod – first so called “one gene, one enzyme” hypothesis - Enzyme Deficiency o Deficiency may occur due to reduced amounts of the enzyme or absent enzymeOR impaired enzyme function (activity) despite normal levels of the enzyme o Most enzyme deficiencies are autosomal recessive in inheritance - Paradigms of “Inborn Errors of Metabolism” o A hypothetical pathway A few different points where the genetic defeat can occur - Phenylketonuria (PKU) o Deficient activity of the enzyme known as ‘ phenylalanine hydroxylase ’ (PAH) o Autosomal recessive (many different alleles – so most patients are compound heterozygotes ”) o F = 1/15,000 births o Part of the newborn screening panel in all 50 states - PKU Clinical Findings o Normal at birth o Without treatment , pts develop microcephaly, seizures, progressive psychomotor retardation , and autistic-like features over first year of life Brain problems within the first year o Without treatment, pts have significant elevation of phenylalanine and alternative phenylalanine metabolites, with reduced levels of tyrosine The features are irreversible Describe effect of mutation on protein function Describe effect of a mutation on metabolism: examples Describe the principles of mitochondrial genetics Vocab: Enzyme Inborn error of metabolism Compound heteroxygote Replicative segregation Heteroplasmy Maternal inheritance
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Outline: - History and principles of biochemical genetics - Phenylketonuria o example of a biochemical genetic diseases - Introduction to newborn screening - Mitochondrial genetics o overview and introduction to key concepts o MERRF = example of mitochondrial disease o introduction to mitochondrial dynamics - Overview of the practice of medical genetics - Phenylalanine Metabolic Pathway o PAH enzyme – breaks down Phe Tyr, so without this you would get increase level of PAH not good for brain development - PKU Treatment o Low phenylalanine diet for life hard to stay on o Regular monitoring of phenylalanine levels, especially in childhood o Counseling regarding maternal PKU syndrome (we will discuss shortly!)
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