Abstract
Mitochondrial disorders belong to the most frequently encountered inborn errors of metabolism. Most affected mitochondrial disease patients harbor a defect in the oxidative phosphorylation system (OXPHOS) of which the incidence is estimated to be over 1:5,000 live births. OXPHOS is the final step in the aerobe production of adenosine triphosphate (ATP). Defects in OXPHOS can be caused by a mutation in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Maternal inheritance, heteroplasmy, and mitotic segregation are characteristics that are unique for mtDNA; understanding of these characteristics is of the utmost importance to understand disorders caused by mtDNA mutations.
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