MCD BIO CM156 Lecture Notes - Lecture 11: Nadh Dehydrogenase, Heteroplasmy, Atp Synthase
12 Feb 2020
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Document Summary
Mictochondria inherited by offspring come from the mother. All offspring of affected females are at risk. Offspring of affected males are not at risk. Phenotype depends on the function of the gene in specific tissues. A wide variety of phenotypes including muscle weakness, exercise intolerance, blindness, deafness, neuromuscular disorders, diabetes, epilepsy. Mutation gets inherited and the mitochondria that is infected enough to produce a disease. Not all offspring will be affected level of heteroplasmy vary among offspring variable expression incomplete penetrance. Making eggs leads to the expansion of the mitochondria. If some of the mutant mitochondria survive, there will be a disease. Explains changing proportions of the type of phenotype. Mother"s offspring will be mutated because she is passing on mutated offspring. Mitochondrial sequences in children that were not present in their mothers. Trinucleotide repeat disorders: earlier age of onset and /or severity through the generations. Dynamic mutations: violated the principle of stable genetic inheritance.
