线粒体遗传与人类系统性高血压

摘要

Mitochondrial DNA (mtDNA) exhibits matrilineal inherence.Familial mitochondrial diseases caused by mtDNA mutations are generally involved in organs featuring high energy consumption,which include heart,brain and skeletal muscle.Recently,it has been found that some essential hypertension patients featured classical maternal inheritance,which has confirmed and enriched mtDNA mutations as one of the molecular mechanisms underlying maternally inherited hypertension.Nevertheless,more general as well as radical questions are still to be answered.This article reviews recent advance in mitochondrial genome evolution,mtDNA genetics and the role of mtDNA mutations in maternally inherited hypertension.%线粒体DNA(mitochondrial DNA,mtDNA)具有母系遗传的特点,由mtDNA突变引起的家族性线粒体疾病常累及心、脑、骨骼肌等高能耗器官.近年来,研究者发现部分原发性高血压患者具有典型的母系遗传特点,从而证实并丰富了mtDNA突变在母系遗传性高血压中的作用.然而,一些根本的共性问题仍然有待于进一步的研究与探讨.本文就线粒体基因组的进化、mtDNA的遗传方式、mtDNA突变在母系遗传性高血压中的分子机理进行综述,并对今后的研究方向提出设想.