Lessons from mitochondrial DNA mutations

The small, maternally inherited mitochondria) DNA (mtDNA) has turned out to be a hotbed of pathogenic mutations: 13 years into the era of 'mitochondrial medicine; over 100 pathogenic point mutations and countless rearrangements have been associated with. a variety of multisystemic or tissue-specific human diseases. MtDNA-related disorders can be divided into two major groups: those due to mutations in genes affecting mitochondria) protein synthesis in toto and those due to mutations in specific protein-coding genes. Pathogenesis is only partially explained by the rules of mitochondrial genetics and remains largely uncharted territory. Therapy is still woefully inadequate, but a number of promising approaches are being developed.