Mitochondrial DNA mutations in human disease.

摘要: The small, maternally inherited mitochondrial DNA (mtDNA) has turned out to be a Pandora's box of pathogenic mutations: 13 years into the era "molecular medicine," more than 100 point mutations and innumerable rearrangements have been associated with striking variety multisystemic as well tissue-specific human diseases. After reviewing principles genetics, we consider disorders due in genes affecting protein synthesis protein-coding genes. In contrast remarkable progress our understanding etiology, pathogenesis is only partially explained by rules genetics remains largely unclear. We review recent prenatal diagnosis, epidemiology, development animal models harboring mtDNA mutations.