Mitochondrial DNA medicine.
The small, maternally inherited mitochondrial DNA (mtDNA) has turned out to be a hotbed of pathogenic mutations: 15 years into the era of 'mitochondrial medicine', over 150 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. Here we review the mitochondrial genetics and the clinical features of the mtDNA-related diseases.
DiMauro
Salvatore
S
Department of Neurology, Columbia University Medical Center, College of Physicians and Surgeons, New York, NY 10032, USA. sd12@columbia.edu
D004272:DNA, Mitochondrial / Q000235:genetics*; D004579:Electron Transport / Q000235:genetics; D050259:Genes, Mitochondrial / Q000235:genetics; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation
D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins