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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
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
2011-11-01
DOI10.1038/jhg.2011.96
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
WOS记录号WOS:000298053900002
项目编号30870864
资助机构National Nature Science Foundation of China
引用统计
被引频次:8[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/50431
专题北京大学第一临床医学院_神经内科
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
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GB/T 7714
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.
APA Zhao, Danhua.,Hong, Daojun.,Zhang, Wei.,Yao, Sheng.,Qi, Xiaokun.,...&Wang, Zhaoxia.(2011).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.JOURNAL OF HUMAN GENETICS,56(11),759-764.
MLA Zhao, Danhua,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".JOURNAL OF HUMAN GENETICS 56.11(2011):759-764.
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