线粒体DNA突变与原发性高血压相关性的研究进展  

Association ofmitochondrial DNA mutations with essential hypertension：a research progress

作　　者：张羽松[1,2] 陈曦[3] 李泱[3] 尹彤[3] 高永红[2] 

机构地区：[1]遵义医学院研究生学院,遵义563000 [2]北京航天总医院老年综合内科,北京100076 [3]解放军总医院老年心血管病研究所,北京100853

出　　处：《中华老年多器官疾病杂志》2014年第10期781-787,共7页Chinese Journal of Multiple Organ Diseases in the Elderly

基　　金：国家自然科学基金重点项目（81030002,81100215）

摘　　要：原发性高血压（EH）作为心脑血管疾病的主要危险因素，严重危害人类健康。前期研究发现，EH在许多家系中都存在母系遗传特性；因此，线粒体DNA（mtDNA）突变成为了探索EH发病机制的新目标。目前已发现多个与EH相关的mtDNA突变位点，这些突变被证实能够导致线粒体氧化磷酸化缺陷，ATP 合成降低，反应活性氧（ROS）增加和诱导线粒体介导的细胞死亡。据此推断，对线粒体功能障碍的深入研究将有望诠释母系遗传性高血压的分子发病机制，而且EH相关的mtDNA突变将有望成为母系遗传性EH诊断的遗传学标志物。鉴于此，本文将对EH相关的mtDNA突变和功能机制进行全面综述。Essential hypertension （EH） is a major risk factor for cardiovascular and cerebrovascular diseases, and is seriously harmful to human health. Previous studies have notedthat there ismaternalinheritanceof EH in some pedigrees. Consequently, mutations in mitochondrial DNA （mtDNA） have become a newtarget for the pathogenesis of EH. Currently studies have found many of mtDNA mutations associated with EH. These mutationshave been confirmed tolead to the failure of oxidative phosphorylation function, deficit in ATP synthesis, increasein reactive oxygen species （ROS） and mitochondrial-mediated cell death. Therefore, the further study on mitochondrial dysfunctionwill provide new insights into the molecular mechanism of maternal inheritance of EH. These mtDNA mutations should be considered as geneticmarkersfor future molecular diagnosis ofmaternallyinherited EH. The present review summarized the mtDNA mutations associated with EH and the related molecular mechanism for EH.

关 键 词：线粒体 DNA 突变 原发性高血压 遗传学  医学 

分 类 号：R394.112[医药卫生—医学遗传学] R544.1[医药卫生—基础医学]