Lessons from mitochondrial DNA mutations. |
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Authors: | S DiMauro |
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Affiliation: | Department of Neurology, 4-420 Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA. sd12@columbia.edu |
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Abstract: | 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. |
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