[线粒体ND5基因作为莱氏综合征的致病基因]
[Mitochondrial ND5 as the causative gene of Leight syndrome].
作者信息
Wang Kang, Yan Chuan-zhu, Wang Guo-xiang, Jiao Jing-song, Jin Miao
机构信息
Department of Neurology, China-Japan Friendship Hospital, Beijing, P.R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):616-9. doi: 10.3760/cma.j.issn.1003-9406.2010.06.003.
OBJECTIVE
To report a Chinese Han family with two patients of Leigh syndrome (LS) and to scan the mutation in mitochondrial DNA(mtDNA).
METHODS
The clinical features and the laboratory findings were summarized. Mitochondrial DNA chip and direct sequencing were performed to detect the mutation in entire mtDNA.
RESULTS
Failure of thrive, psychomotor retardation, hypotonia and weakness, cerebellar ataxia, and seizure were the main manifestations of the family. Brain magnetic resonance imaging (MRI) showed lesions at midbrain, periaqueductal gray matter, dentate nuclei of cerebellar and thalami. The levels of lactic acid and pyruvate were mildly abnormal. The mutation of ND5*13513 G to A was identified in the LS family.
CONCLUSION
Patients with ND5*13513 G to A mutation may have a characteristic clinical course and ND5 *13513 G to A might be a preferential candidate mutation of Leigh syndrome.
目的
报告一个有两名 Leigh 综合征（LS）患者的中国汉族家系，并检测线粒体 DNA（mtDNA）中的突变。
方法
总结临床特征和实验室检查结果。采用线粒体 DNA 芯片和直接测序法检测整个 mtDNA 中的突变。
结果
该家系的主要表现为生长发育迟缓、精神运动发育迟滞、肌张力减退和肌无力、小脑共济失调及癫痫发作。脑磁共振成像（MRI）显示中脑、导水管周围灰质、小脑齿状核和丘脑有病变。乳酸和丙酮酸水平轻度异常。在该 LS 家系中鉴定出 ND5*13513 G 突变为 A。
结论
携带 ND513513 G 突变为 A 的患者可能有特征性的临床病程，且 ND513513 G 突变为 A 可能是 Leigh 综合征的一个优先候选突变。
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