Lessons from mitochondrial DNA mutations.
The small, maternally inherited mitochondrial 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 mitochondrial 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.
DiMauro
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Department of Neurology, 4-420 Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA. sd12@columbia.edu
D000818:Animals; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D051379:Mice; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D017240:Mitochondrial Myopathies / Q000235:genetics / Q000503:physiopathology; D023421:Models, Animal; D009154:Mutation / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics / Q000503:physiopathology
D004272:DNA, Mitochondrial