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Semin Cell Dev Biol. 2001 Dec;12(6):397-405.

Lessons from mitochondrial DNA mutations.

Author information

1
Department of Neurology, 4-420 Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA. sd12@columbia.edu

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.

PMID:
11735374
DOI:
10.1006/scdb.2001.0277
[Indexed for MEDLINE]
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