haun77 - Medical Biochemistry Biochemical and Genetic Basis...

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Medical Biochemistry Biochemical and Genetic Basis of Disease Lecture 77
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Classes of Biomolecules Affected in Disease All classes of biomolecules found in cells are affected in structure, function, or amount in one or another disease Can be affected in a primary manner ( e.g., defect in DNA) or secondary manner ( e.g., structures, functions, or amounts of other biomolecules)
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Rate of Biochemical Alterations Biochemical alterations that cause disease may occur rapidly or slowly Cyanide (inhibits cytochrome oxidase) kills within a few minutes Massive loss of water and electrolytes ( e.g., cholera) can threaten life within hours May take years for buildup of biomolecule to affect organ function ( e.g., mild cases of Niemann-Pick disease may slowly accumulate sphingomyelin in liver and spleen)
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Deficiency or Excess of Biomolecules Diseases can be caused by deficiency or excess of certain biomolecules deficiency of vitamin D results in rickets, excess results in potentially serious hypercalcemia Nutritional deficiencies primary cause - poor diet secondary causes - inadequate absorption, increased requirement, inadequate utilization, increased excretion
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Organelle Involvement Almost every cell organelle has been involved in the genesis of various diseases
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Different Mechanisms, Similar Effect Different biochemical mechanisms can produce similar pathologic, clinical, and laboratory findings The major pathological processes can be produced by a number of different stimuli e.g., fibrosis of the liver (cirrhosis) can result from chronic intake of EtOH, excess of copper (Wilson’s disease), excess of iron (primary hemochromatosis), deficiency of α 1 -antitrypsin, etc. different biochemical lesions producing similar end point when local concentration of a compound exceeds its solubility point (excessive formation or decreased removal) precipitation to form a calculus e.g., calcium oxalate, magnesium ammonium phosphate, uric acid, and cystine may all form renal stone, but accumulate for different biochemical reasons
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Genetic Diseases Many disease are determined genetically Three major classes: (1) chromosomal disorders , (2) monogenic disorders (classic Mendelian), and (3) multifactorial disorders (product of multiple genetic and environmental factors)
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Genetic Diseases Polygenic denotes disorder caused by multiple genetic factors independently of environmental influences Somatic disorders - mutations occur in somatic cells (as in many types of cancer) Mitochondrial disorders - due to mutations in mitochondrial genome
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haun77 - Medical Biochemistry Biochemical and Genetic Basis...

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