一名具有线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）及肌阵挛性癫痫伴破碎红纤维（MERRF）临床特征的患者出现新型线粒体DNA ND5突变。
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.
作者信息
Naini Ali B, Lu Jiesheng, Kaufmann Petra, Bernstein Richard A, Mancuso Michelangelo, Bonilla Eduardo, Hirano Michio, DiMauro Salvatore
机构信息
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
出版信息
Arch Neurol. 2005 Mar;62(3):473-6. doi: 10.1001/archneur.62.3.473.
BACKGROUND
The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS) and various overlap syndromes.
OBJECTIVE
To describe a novel mutation in the ND5 gene in a young man man with an overlap syndrome of MELAS and myoclonus epilepsy with ragged-red fibers.
DESIGN
Case report.
PATIENT
A 25-year-old man had recurrent strokes, seizures, and myoclonus. His mother also had multiple strokes. A muscle biopsy specimen showed no ragged-red fibers but several strongly succinate dehydrogenase-reactive blood vessels.
RESULTS
Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A) in the ND5 gene.
CONCLUSIONS
These data confirm that ND5 is a genetic hot spot for overlap syndromes, including MELAS and strokelike and myoclonus epilepsy with ragged-red fibers.
背景
编码复合体I亚基5（ND5）的线粒体DNA基因已成为与伴有乳酸性酸中毒和类卒中发作的线粒体脑肌病（MELAS）及各种重叠综合征相关的突变热点。
目的
描述一名患有MELAS与肌阵挛性癫痫伴破碎红纤维重叠综合征的年轻男性中ND5基因的一种新突变。
设计
病例报告。
患者
一名25岁男性反复发生卒中、癫痫发作和肌阵挛。他的母亲也有多次卒中发作。肌肉活检标本未显示破碎红纤维，但有几条琥珀酸脱氢酶反应强烈的血管。
结果
生化分析显示单纯复合体I缺乏，分子分析揭示ND5基因存在一种新的异质性突变（G13042A）。
结论
这些数据证实ND5是重叠综合征的遗传热点，包括MELAS以及类卒中发作和肌阵挛性癫痫伴破碎红纤维。
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