DiMauro S
Department of Neurology, 4-420 Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA.
Semin Cell Dev Biol. 2001 Dec;12(6):397-405. doi: 10.1006/scdb.2001.0277.
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.
微小的、由母亲遗传的线粒体DNA（mtDNA）已成为致病突变的温床：在“线粒体医学”时代开启13年后，100多种致病点突变和无数重排已与多种多系统或组织特异性人类疾病相关联。与mtDNA相关的疾病可分为两大类：一类是由于影响线粒体蛋白质合成整体的基因突变所致，另一类是由于特定蛋白质编码基因突变所致。发病机制仅部分由线粒体遗传学规则解释，在很大程度上仍是未知领域。治疗仍然严重不足，但正在开发一些有前景的方法。
