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学科主题: 临床医学
题名:
Clinical features of mitochondrial DNA m.3243A > G mutation in 47 Chinese families
作者: Ma, Yinan1; Fang, Fang2; Cao, Yanyan1; Yang, Yanling3; Zou, Liping4; Zhang, Ying1; Wang, Songtao1; Zhu, Sainan5; Xu, Yufeng1; Pei, Pei1; Qi, Yu1
关键词: Mitochondrion ; m.3243A > ; G mutation ; MELAS ; Urine ; Family ; China
刊名: JOURNAL OF THE NEUROLOGICAL SCIENCES
发表日期: 2010-04-15
DOI: 10.1016/j.jns.2010.01.012
卷: 291, 期:1-2, 页:17-21
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology ; Neurosciences
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: LACTIC-ACIDOSIS ; MELAS MUTATION ; EPISODES MELAS ; DISEASE ; ENCEPHALOPATHY ; A3243G ; PRESENTATIONS ; PHENOTYPE ; MYOPATHY ; CELLS
英文摘要:

m.3243A>G mutation in mitochondrial DNA is the most common pathogenic point mutation, causing a variety of phenotypes. To further elucidate its clinical characteristics, we recruited 47 Chinese families carrying m.3243A>G mutation and analyzed their symptoms, disease history, inheritance, and mitochondria-related complications. In the probands, lactic acidosis, myopathy, seizures, short stature, weight loss and hirsutism were the most common clinical features. In their mothers, lactic acidosis, exercise intolerance, short stature and weight loss were the frequent manifestations, and normal phenotype was found in 59.6% mothers. m.3243A>G mutation was detected in 47 probands and 42 mothers. In the probands, the mutation ratio in blood was threefold higher and the ratio in urine was twofold higher than those of their mothers. m.3243A>G mutation ratio in mothers′ urine and in their probands′ blood were weakly correlated. In conclusion, (a) stroke-like episode induced by m.3243A>G mutation may be the symptom predominantly found in older patients; (b) m.3243A>G mutation ratio correlates with the severity of the disease; (c) m.3243A>G mutation ratio in mothers′ urine may correlate to the ratio in blood in their offspring. (C) 2010 Elsevier B.V. All rights reserved.

语种: 英语
所属项目编号: 30700912
项目资助者: National Natural Science Foundation of China ; Peking University First Hospital
WOS记录号: WOS:000276624200004
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/53760
Appears in Collections:北京大学第一临床医学院_中心实验室_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Cent Lab, Beijing 100034, Peoples R China
2.Beijing Childrens Hosp, Dept Neurol, Beijing 100045, Peoples R China
3.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
4.Peking Univ, Hosp 1, Dept Stat, Beijing 100034, Peoples R China
5.Gen Hosp Peoples Liberat Army, Dept Pediat, Beijing 100853, Peoples R China

Recommended Citation:
Ma, Yinan,Fang, Fang,Cao, Yanyan,et al. Clinical features of mitochondrial DNA m.3243A > G mutation in 47 Chinese families[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES,2010,291(1-2):17-21.
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