MITOCHONDRIAL DISEASES II (Oral)

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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 syndromes, affecting different organ systems. However, mutations in the mtDNA cause diseases only when the levels of the mutated genomes exceed a threshold that triggers a bioenergetics defect.

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