线粒体DNA突变在高血压中的作用  

Roles of mitochondrial DNA mutations in hypertension

作　　者：徐伟东 孟燕子 张丽丽[1] XU Weidong;MENG Yanzi;ZHANG Lili(Department of Endocrinology,Jincheng General Hospital Affiliated to Shanxi Medical University,Jincheng 048006,China;Department of Medical Laboratory Medicine,Jincheng General Hospital Affiliated to Shanxi Medical University,Jincheng 048006,China)

机构地区：[1]山西医科大学附属晋城大医院内分泌科,晋城048006 [2]山西医科大学附属晋城大医院医学检验科,晋城048006

出　　处：《生命的化学》2024年第3期404-413,共10页Chemistry of Life

基　　金：山西省青年科学研究项目(202203021222419)。

摘　　要：原发性高血压是最常见的心血管疾病,占高血压的95%,在全球范围内的患病率接近27%。高血压的发生增加了大脑、心脏和肾脏的发病风险,是多种心血管疾病的重要病因和危险因素。高血压病因复杂,遗传因素是其发病机制之一,目前已知的高血压相关基因多为细胞核DNA。近年来,越来越多的研究显示,线粒体DNA(mitochondrial DNA,mtDNA)突变在高血压的发生发展中扮演着重要的角色。作为维持血管稳态的重要参与者,线粒体主要通过氧化磷酸化实现对血管细胞的调节。由于结构中缺乏组蛋白和有效的修复机制,mtDNA特别容易受到某些应激诱导的损伤而发生突变。这些mtDNA突变可导致线粒体功能障碍,造成氧化磷酸化缺陷,减少腺嘌呤核苷三磷酸(adenosinetriphosphate,ATP)的合成,增加活性氧(reactive oxygen species,ROS)的产生,引起氧化应激、炎症反应等,对血管结构和功能造成影响,在高血压的发生发展中发挥重要作用。本文介绍了mtDNA突变在高血压中的研究进展,旨在为高血压的防治提供新的策略。Essential hypertension is the most common cardiovascular disease,accounting for 95%of hypertension,with a global prevalence of nearly 27%.The occurrence of hypertension increases the risk of brain,heart and kidney diseases and is an important cause and risk factor of various cardiovascular diseases.The causes of hypertension are complex,and heredity is one of its pathogenesis.Most of the currently known hypertension-related genes are nuclear genes.In recent years,more and more studies have shown that mitochondrial DNA(mtDNA)mutations play an important role in the occurrence and development of hypertension.As an important player in maintaining vascular homeostasis,mitochondria regulate vascular cells mainly through oxidative phosphorylation.Due to the lack of histones and efficient repair mechanisms in its structure,mtDNA is particularly susceptible to mutations induced by certain stress-induced damages.mtDNA mutations can lead to mitochondrial dysfunction,cause oxidative phosphorylation defects,reduce the synthesis of adenosine-triphosphate(ATP),increase the production of reactive oxygen species(ROS),cause oxidative stress,inflammation,etc.,and have negative effects on vascular structure and function,and play an important role in the occurrence and development of hypertension.This review introduces the research progress of mtDNA mutations in hypertension,aiming to provide new targets for the prevention and treatment of hypertension.

关 键 词：高血压 母系遗传 MTDNA突变 线粒体tRNA 氧化应激 血管重塑 

分 类 号：R544.1[医药卫生—心血管疾病]