线粒体基因突变与原发性高血压及左心室肥厚的相关研究

Relationship between mitochondrial mutations,essentialhypertension and left ventricular hypertrophy

目的:探讨线粒体基因突变在原发性高血压(EH)及左心室肥厚发病机制中作用,为临床诊断和治疗EH提供新的思路。方法:选择2006-01-2007-01之间540例EH患者,分为左心室肥厚组(270例)和非肥厚组(270例),进行线粒体突变位点及频率分析。270例健康体检者设为对照组。结果:肥厚组及非肥厚组患者突变位点和频率未发现显著性差异。与对照组比较,肥厚组及非肥厚组C8414T(P=0.01),A8701G(P=0.0001)均差异有统计学意义。结论:线粒体位点突变与EH左心室肥厚关系不甚密切,但是一些特殊位点的点突变因其对线粒体功能的影响,值得进一步研究。A8701G与C8414T突变可能影响了EH的发生发展进程。

Objective：To investigate the role of mitochondrial mutations in the pathogenesis of essential hypertension and left ventricular hypertrophy,and to find a new way to diagnose and treat hypertension. Method：We recruited 540 outpatients or in-patients at the General Hospital of PLA from January 2006 to January 2007. They were divided into hypertrophy and non-hypertrophy group,besides 270 healthy individuals as control. And sequence analyses were performed at the hotspots of mitochondrial DNA. Result：There were no significant differences in mitochondrial variants between hypertrophy and non-hypertrophy group. However,C8414T（P=0.01）and A8701G（P=0.0001） were found remarkably more in the cases than the control. Conclusion：Mitochondrial variants were not tightly related to the pathogenesis of left ventricular hypertrophy,while some specific variants deserve further investigation due to their influence on function of mitochondria. C8414T and A8701G might affect the course of essential hypertension.