BICD 100 Lecture Notes - Lecture 5: Myoclonic Epilepsy, Autophagy, Wild Type
29 Oct 2016
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Document Summary
X-linked dominant, every generation, sons don"t inherit the trait from the dad, only daughters. ***only females being affected by the dad***** skewed distribution between the males and females. Mitochondrial mutation myoclonic epilepsy and ragged-red fiber disease: mitochondria is only passed from mother to child, children of affected mothers have the trait and children of affected fathers do not. Sperm destroys mitochondrial dna before it fuses with the egg: ex: myoclonic epilepsy and ragged-red fiber disease. Children of affected mothers have the trait. Why: mito genes encode proteins for respiration: trnas, rrna, 2 major aspects of mitochondrial inheritance. Offspring inherit several mito from mom, so impact of mutation can be diluted out by normal mito. Replication and segregation of mito between dividing cells is stochastic. Danon disease: x linked dominant trait causing defects in autophagy most affecting mitochondria in muscle including heart.
