DiMauro Salvatore
Department of Neurology, Columbia University Medical Center, College of Physicians and Surgeons, New York, NY 10032, USA.
Biosci Rep. 2007 Jun;27(1-3):5-9. doi: 10.1007/s10540-007-9032-5.
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.
微小的、由母系遗传的线粒体DNA（mtDNA）已成为致病突变的温床：在“线粒体医学”时代过去15年后，超过150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。在此，我们综述线粒体遗传学以及与mtDNA相关疾病的临床特征。
