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What makes mitochondrial disease unusual?
• Inheritance pattern is unique as mtDNA is wholly maternally inherited
• mtDNA inherited in the sperm ubiquinated and destroyed
• Clinical manifestations related to the proportion of normal to mutated mitochondria (heteroplasmy) and the particular gene
• Inheritance pattern in next generation is unpredictable as dependent on the inheritance proportion in the oocyte
AFFECTED
UNAFFECTED
What makes mitochondrial disease unusual?
Mitochondrial inheritance
Turnbull & Taylor. Mitochondrial DNA mutations in human disease. Nature Reviews Genetics, 6, 389‐401, 2005
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