Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan
Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan
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DOI：
10.1007/s10038-003-0116-1
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发表时间：
2004-02-01
影响因子：
3.5
通讯作者：
Goto, Y
中科院分区：
文献类型：
--
作者：
Sudo, A;Honzawa, S;Goto, Y
线粒体DNA（mtDNA）ND 5亚基基因G13513 A突变最近已被报道为线粒体肌病的一些表型的常见原因。到目前为止，这种突变在Leigh综合征（LS）中的患病率和特征尚未确定。我们筛选了84例Leigh综合征（LS）患者，在其中6例（7%）中发现了突变。肌肉中突变mtDNA的比例相对较低（42-70%）。该突变患者的症状发作时间为9个月至5年。应该注意的是，5例患者有心脏传导异常，特别是Wolff-Parkinson-白色（WPW）综合征（3例患者）。这项研究表明，G13513 A突变是LS的常见原因，并且具有这种突变的患者可能具有特征性的临床病程。
The mitochondrial DNA (mtDNA) G13513A mutation in the ND5 subunit gene has been recently reported as a common cause of some phenotypes of mitochondrial myopathy. Until now, the prevalence and characteristics of this mutation in Leigh syndrome (LS) has not been determined. We screened 84 patients with Leigh syndrome (LS) and found the mutation in six (7%) of them. The proportions of mutant mtDNA in muscles were relatively low (42-70%). The onset of symptoms for patients with this mutation was from 9 months to 5 years. It should be noted that five patients had cardiac conduction abnormalities, particularly Wolff-Parkinson-White (WPW) syndrome (three patients). This study suggests that G13513A mutation is a frequent cause of LS and that patients with this mutation may have a characteristic clinical course.