线粒体脑病包括一些很易识别的临床综合征,以及由于机体一个或多个系统主要依赖于氧化磷酸化做为细胞能量来源的组织功能障碍而引起的难以确诊的综合征。mtDNA的不同突变和这些情况关系密切。 每个线粒体的多数拷贝中发现mtDNA,而每个细胞中又有成百上千个拷贝。对于和mtDNA突变相关的疾病来说,受累个体常见有异胞质基因(也就是说突 Mitochondrial encephalopathy includes some easily identifiable clinical syndromes, as well as difficult-to-diagnose syndromes caused by one or more of the body’s systems that rely mainly on oxidative phosphorylation as a source of tissue energy for cellular energy. Different mutations in mtDNA are closely related to these conditions. The mtDNA is found in most copies of each mitochondria, with hundreds of copies in each. For diseases associated with mtDNA mutations, the affected individual is typically found to have a heterogenous gene (that is,