Wallace D C, Shoffner J M, Trounce I, Brown M D, Ballinger S W, Corral-Debrinski M, Horton T, Jun A S, Lott M T
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA.
Biochim Biophys Acta. 1995 May 24;1271(1):141-51. doi: 10.1016/0925-4439(95)00021-u.
A wide variety of mitochondrial DNA (mtDNA) mutations have recently been identified in degenerative diseases of the brain, heart, skeletal muscle, kidney and endocrine system. Generally, individuals inheriting these mitochondrial diseases are relatively normal in early life, develop symptoms during childhood, mid-life, or old age depending on the severity of the maternally-inherited mtDNA mutation; and then undergo a progressive decline. These novel features of mtDNA disease are proposed to be the product of the high dependence of the target organs on mitochondrial bioenergetics, and the cumulative oxidative phosphorylation (OXPHOS) defect caused by the inherited mtDNA mutation together with the age-related accumulation mtDNA mutations in post-mitotic tissues.
最近在脑、心脏、骨骼肌、肾脏和内分泌系统的退行性疾病中发现了各种各样的线粒体DNA（mtDNA）突变。一般来说，遗传这些线粒体疾病的个体在生命早期相对正常，根据母系遗传的mtDNA突变的严重程度，在儿童期、中年或老年出现症状；然后病情逐渐恶化。mtDNA疾病的这些新特征被认为是靶器官对线粒体生物能量学高度依赖的产物，以及遗传的mtDNA突变导致的累积氧化磷酸化（OXPHOS）缺陷与有丝分裂后组织中与年龄相关的mtDNA突变积累共同作用的结果。
