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心力衰竭患者心肌线粒体DNA缺失突变的定量分析及与心功能损害程度的关系 |
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Quantitative analysis of myocardial mitochondrial DNA de
letion and its relation-ship with cardiac dysfunction in heart failure
袁祖贻 刘治全 马爱群 封启明 隋东虎 郑建杰 杨鼎颐
Yuan Zuyi, Liu Zhiquan, Ma Aiqun, et al
【摘要】 目的 为探讨心肌线粒体DNA(mtDNA)获得性损伤在衰竭心肌发病中的
意义。方法 对28例慢性心力衰竭患者活检心肌，用定量PCR方法，以常发缺失型
突变mtDNA4977 bp(mt-DNA4977)和7436 bp(mtDNA7436)缺失率为指标，观察心力衰
竭不同发展阶段mtDNA损伤程度与患者临床心功能受损之间的关系。结果 慢性心
力衰竭患者活检心肌中mtDNA4977缺失频率为100%，缺失率在0.103%～1.028%之间；
70%的扩张型心肌病(DCM)和38.9%的风湿性心脏病(RHD)患者存在mtDNA7436缺失，缺
失率在0.009%～0.488%之间。10例健康对照者中，仅2例45岁以上者有低水平的mtDNA
缺失。心功能愈差，左房扩大愈明显者，mtDNA缺失率愈高；扩张型心肌病缺失程度
明显高于风湿性心脏病。结论 心肌mtDNA损伤与心脏功能的受损程度密切相关，特
别是DCM患者。
【关键词】 DNA，线粒体 突变 心力衰竭，充血性
Quantitative analysis of myocardial mitochondrial DNA deletion and its relationship with
cardiac dysfunction in heart failure Yuan Zuyi, Liu Zhiquan, Ma Aiqun, et al. Department
of Cardiology, First Clinical Medical College of Xi′an Medical University, Xi′an 710061
【Abstract】 Objective To assess the effects of acquired myocardial mitochondrial DNA
(mtDNA) damage in the development of heart failure. Methods Twenty eight patients with
congestive heart failure who underwent endomyocardial biopsy, together with 10 control hearts
obtained at autopsy from people who died from accident were enrolled. The mtDNA deletions
were analyzed by quantitative polymerase chain reaction(PCR) technique. The frequency and
extent of two commonly encountered mtDNA deletions, mtDNA 4977 bp(mtDNA4977) and
7436 bp(mtDNA7436) deletions were used as the damage index to assess the relationship of
the extent of mtDNA damage with the degree of cardiac dysfunction in the development of heart
failure. Results mtDNA4977 deletion was observed in the hearts of all of the patients with
congestive heart failure, accounting for 0.103—1.028% of the total mtDNA; mtDNA7436 de[1] [2] [3] 下一页
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