| 线粒体DNA变异与肥厚型心肌病 |
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| 引用本文： | 赵新涛,王继征,宋雷,王旭.线粒体DNA变异与肥厚型心肌病[J].中国分子心脏病学杂志,2014(2):913-916. |
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| 作者姓名： | 赵新涛 王继征 宋雷 王旭 |
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| 作者单位： | [1]青岛大学医学院附属青岛市市立医院东院心内科,青岛市266071 [2]中国医学科学院北京协和医学院阜外心血管病医院国家心血管病中心心血管疾病国家重点实验室,北京市100037 |
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| 摘 要： | 目的肥厚型心肌病（hypertrophiccardiomyopathy,HCM）是指未伴心室扩张的不明原因左室肥厚，以室间隔非对称性肥厚常见。HCM多由编码肌小节蛋白的基因突变所致；有少部分患者由线粒体DNA突变引起，呈母系遗传。线粒体DNA变异导致HCM的分子机制可能与引起的线粒体结构功能改变，造成氧化磷酸化缺陷，ATP合成不足。本文着重对与HCM相关的mtDNA变异位点作一综述。
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| 关 键 词： | 肥厚型心肌病 线粒体DNA 突变 |
Mitochondrial DNA Variation in Hypertrophic Cardiomyopathy |
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| ZHAO Xin-tao,WANG Ji-zheng,Song Lei,WANG Xu.Mitochondrial DNA Variation in Hypertrophic Cardiomyopathy[J].Molecular Cardiology of China,2014(2):913-916. |
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| Authors: | ZHAO Xin-tao WANG Ji-zheng Song Lei WANG Xu |
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| Institution: | .Department of Cardiology, Qingdao Municipal Hospital of Qingdao University Medical College, Qingdao, 266071,China |
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| Abstract: | Hypertrophic cardiomyopathy is a autosomal dominant genetic disease characterized by asymmetric thickening of the septum and left ventricular wall. Mitochondrial DNA mutation,which lead to changes in mitochondrial structure and function, may result in Oxidative phosphorylation impairment that may decrease ATP synthesis. Rencent studies show that Mutations in mitochondrial DNA have been found to be one of the most important causes of hypertrophic cardiomyopathy. This review summarized mtDNA mutation sites associated with HCM. |
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| Keywords: | Hypertrophic Cardiomyopathy Mitochondrial DNA Mutation |
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