Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu, Tokyo 183-0042, Japan.
Neurol Sci. 2011 Oct;32(5):861-4. doi: 10.1007/s10072-011-0719-9. Epub 2011 Aug 24.
We present a Japanese family suffering from mitochondrial encephalomyopathy associated with a T-to-C transition at mitochondrial DNA (mtDNA) nucleotide position 3291. Clinical manifestations of the patients include cerebellar ataxia with myopathy, recurrent headache, and myoclonus and epilepsy. The phenotypic variation among the affected members of a single family and the mutational analysis showing maternal inheritance in a heteroplasmic fashion are consistent with well-recognized phenomena associated with many pathogenic point mutations of mtDNA tRNA genes. The 3291 mutation is a rare mtDNA mutation whose clinical presentation had only been reported in three sporadic cases. This is the first report of a family segregating the 3291 mutation with multigenerational matrilinear recurrence of mitochondrial encephalopathy. Our findings provide conclusive evidence for the pathogenicity of the 3291T > C mutation in mtDNA and its characteristic clinical heterogeneity.
我们介绍了一个日本家庭，该家庭患有与线粒体 DNA（mtDNA）核苷酸位置 3291 处的 T 到 C 转换相关的线粒体脑肌病。患者的临床表现包括小脑共济失调伴肌病、复发性头痛、肌阵挛和癫痫。单个家族中受影响成员的表型变异以及显示异质母系遗传的突变分析与许多 mtDNA tRNA 基因突变相关的公认现象一致。3291 突变是一种罕见的 mtDNA 突变，其临床表现仅在三例散发性病例中报道过。这是第一个报道具有线粒体脑病多代母系复发的 3291 突变的家族。我们的研究结果为 mtDNA 3291T > C 突变的致病性及其特征性临床异质性提供了确凿的证据。
