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学科主题: 临床医学
题名:
Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
作者: Zhao, Danhua1; Hong, Daojun1; Zhang, Wei1; Yao, Sheng2; Qi, Xiaokun2; Lv, He1; Zheng, Riliang1; Feng, Liqun3; Huang, Yining1; Yuan, Yun1; Wang, Zhaoxia1
关键词: MELAS ; mitochondrial DNA ; mitochondrially encoded complex I ; MTND ; mutation
刊名: JOURNAL OF HUMAN GENETICS
发表日期: 2011-11-01
DOI: 10.1038/jhg.2011.96
卷: 56, 期:11, 页:759-764
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: MELAS-SYNDROME ; DNA MUTATIONS ; ND5 GENE ; OVERLAP SYNDROME ; MTDNA MUTATION ; FREQUENT CAUSE ; DISEASE ; DEFICIENCY ; SUBUNIT ; IDENTIFICATION
英文摘要:

The mutation pattern of mitochondrial DNA (mtDNA) in mainland Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) has been rarely reported, though previous data suggested that the mutation pattern of MELAS could be different among geographically localized populations. We presented the results of comprehensive mtDNA mutation analysis in 92 unrelated Chinese patients with MELAS (85 with classic MELAS and 7 with MELAS/Leigh syndrome (LS) overlap syndrome). The mtDNA A3243G mutation was the most common causal genotype in this patient group (79/92 and 85.9%). The second common gene mutation was G13513A (7/92 and 7.6%). Additionally, we identified T10191C (p.S45P) in ND3, A11470C (p. K237N) in ND4, T13046C (p.M237T) in ND5 and a large-scale deletion (13025-13033: 14417-14425) involving partial ND5 and ND6 subunits of complex I in one patient each. Among them, A11470C, T13046C and the single deletion were novel mutations. In summary, patients with mutations affecting mitochondrially encoded complex I (MTND) reached 12.0% (11/92) in this group. It is noteworthy that all seven patients with MELAS/LS overlap syndrome were associated with MTND mutations. Our data emphasize the important role of MTND mutations in the pathogenicity of MELAS, especially MELAS/LS overlap syndrome. Journal of Human Genetics (2011) 56, 759-764; doi: 10.1038/jhg.2011.96; published online 18 August 2011

语种: 英语
所属项目编号: 30870864
项目资助者: National Nature Science Foundation of China
WOS记录号: WOS:000298053900002
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/50431
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China
2.Navy Gen Hosp, Dept Neurol, Beijing, Peoples R China
3.Anzhen Hosp, Dept Neurol, Beijing, Peoples R China

Recommended Citation:
Zhao, Danhua,Hong, Daojun,Zhang, Wei,et al. Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes[J]. JOURNAL OF HUMAN GENETICS,2011,56(11):759-764.
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