DiMauro S, Andreu A L
Department of Neurology, Columbia University College of Physicians & Surgeons, New York, NY 10032, USA.
Brain Pathol. 2000 Jul;10(3):431-41. doi: 10.1111/j.1750-3639.2000.tb00275.x.
The small, maternally inherited mtDNA has turned out to be a Pandora's box of pathogenic mutations: 12 years into the era of "mitochondrial medicine," about 100 pathogenic point mutations and innumerable rearrangements have been associated with a bewildering variety of multisystemic as well as tissue-specific human diseases. After reviewing the principles of mitochondrial genetics, we compare and contrast the clinical and pathological features of disorders due to mutations in genes affecting mitochondrial protein synthesis with those of mutations in protein-coding genes. In contrast to the striking progress in our understanding of etiology, pathogenesis is only partially explained by the rules of mitochondrial genetics and remains largely terra incognita. We review recent progress in prenatal diagnosis and epidemiology. Therapy is still woefully inadequate, but a number of promising approaches are being developed.
小型的、由母亲遗传的线粒体DNA（mtDNA）已被证明是一个装满致病突变的潘多拉魔盒：在“线粒体医学”时代已过去12年之际，约100种致病点突变和无数重排已与各种各样令人困惑的多系统以及组织特异性人类疾病相关联。在回顾线粒体遗传学原理之后，我们比较并对比了影响线粒体蛋白质合成的基因突变所致疾病与蛋白质编码基因突变所致疾病的临床和病理特征。与我们在病因学理解上取得的显著进展形成对比的是，发病机制仅部分地由线粒体遗传学规则解释，在很大程度上仍是未知领域。我们回顾了产前诊断和流行病学方面的最新进展。治疗仍然严重不足，但正在开发一些有前景的方法。
