Verma A, Moraes C T, Shebert R T, Bradley W G
Department of Neurology, University of Miami, FL, USA.
Neurology. 1996 May;46(5):1334-6. doi: 10.1212/wnl.46.5.1334.
We describe a two-generation family with combined clinical features of myoclonic epilepsy, progressive external ophthalmoplegia (PEO), proximal myopathy, pigmentary retinopathy, progressive deafness, basal ganglia calcification, and ragged-red fibers in a muscle biopsy specimen. One family member died unexpectedly at age 22 years. The molecular tests revealed an A-to-G transition at nucleotide position 3243 of the mitochondrial tRNA(Leu(UUR)) gene. No one in this family had stroke-like episodes. Although the propositus (a 28-year-old woman) had a significant number of white hairs, the percentage of mutant mtDNA in white-hair roots was not different from that in the colored-hair roots. Our findings suggest that the 3243 mutation can be associated with mixed clinical features of myoclonic epilepsy with ragged-red fibers (MERRF) and PEO and that a preferential increase in the levels of the mutant mtDNA is not related to graying of hair, and hence to the hypothesized production of premature aging of cells.
我们描述了一个两代家族，其具有肌阵挛性癫痫、进行性眼外肌麻痹（PEO）、近端肌病、色素性视网膜病变、进行性耳聋、基底节钙化以及肌肉活检标本中出现破碎红纤维等综合临床特征。一名家族成员在22岁时意外死亡。分子检测显示线粒体tRNA(Leu(UUR))基因第3243位核苷酸发生A到G的转换。该家族中无人有类卒中发作。尽管先证者（一名28岁女性）有大量白发，但白发根部的突变型线粒体DNA百分比与有色发根部并无差异。我们的研究结果表明，3243突变可能与肌阵挛性癫痫伴破碎红纤维（MERRF）和PEO的混合临床特征相关，且突变型线粒体DNA水平的优先增加与头发变白无关，因此也与细胞过早衰老的假设产生无关。
