Significance of human mitochondrial genome in medicine

: Mitochondrial function is necessary for energy production, but also plays important roles in oxidative stress and apoptosis. Part of the complexes responsible for mitochondrial metabolism are encoded in mitochondrial DNA (mtDNA). Knowledge of the structure and function of mtDNA affords a better understanding of (1) the physiopathology of mitochondrial disorders; (2) the pattern of inheritance of mitochondrial diseases; and (3) the strategies that can be employed in the molecular diagnosis of these disorders. In the near future important breakthroughs are expected regarding the understanding of the cross-talk between nuclear and mitochondrial genomes, and its relevance in the biogenesis and maintenance of mitochondria.