MITOCHONDRIAL DISEASES II (Oral)

The human mitochondrial DNA (mtDNA) codes several proteins important for the function of the Oxidative Phosphorylation system (OXPHOS). These include 13 polypeptides, which are catalytic OXPHOS subunits, 22 tRNAs and 2 rRNAs. The mtDNA is inherited exclusively from the mother and it is present in multiple copies (approximately 1000 per cell). In the last 20 years, a large number of mutations (>200) in the mtDNA have been associated with clinical...