McFarland R, Turnbull D M
Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, Newcastle University, Newcastle-upon-Tyne, UK.
J Intern Med. 2009 Feb;265(2):210-28. doi: 10.1111/j.1365-2796.2008.02066.x.
In 1998, Wallace et al. (Science 1988; 242: 1427-30) published evidence that the mutation m.11778G>A was responsible for causing Leber's hereditary optic neuropathy. This was the first account of a mitochondrial DNA mutation being irrefutably linked with a human disease and was swiftly followed by a report from Holt et al. (Nature 1988; 331: 717-9) identifying deletions in mitochondrial DNA as a cause for myopathy. During the subsequent 20 years there has been an exponential growth in 'mitochondrial medicine', with clinical, biochemical and genetic characterizations of a wide range of mitochondrial diseases and evidence implicating mitochondria in a host of many other clinical conditions including ageing, neurodegenerative illness and cancer. In this review we shall focus on the diagnosis and management of mitochondrial diseases that lead directly or indirectly to disruption of the process of oxidative phosphorylation.
1998年，华莱士等人（《科学》，1988年；242: 1427 - 1430）发表证据表明，m.11778G>A突变是导致莱伯遗传性视神经病变的原因。这是线粒体DNA突变与人类疾病无可争议地联系起来的首次报道，随后霍尔特等人（《自然》，1988年；331: 717 - 719）迅速发表了一份报告，确定线粒体DNA缺失是肌病的一个病因。在随后的20年里，“线粒体医学”呈指数级增长，对多种线粒体疾病进行了临床、生化和遗传学特征分析，并有证据表明线粒体与许多其他临床病症有关，包括衰老、神经退行性疾病和癌症。在这篇综述中，我们将重点关注直接或间接导致氧化磷酸化过程中断的线粒体疾病的诊断和管理。
