CAJ | 학술논문

线粒体基因突变与多种疾病的发生有关，虽然转移RNA（tRNA）基因只占整个线粒体基因组的10%，但它们却是研究线粒体基因突变与疾病发生关系的热点。既往高血压遗传学的研究主要集中在核基因方面，近年来研究发现线粒体DNA突变可能参与原发性高血压（EH）的发生与发展，且越来越多的线粒体tRNA也被报道与EH的发生和发展密切相关。本文对线粒体tRNA突变与高血压发病的关系及其机制进行了综述。
선립체기인돌변여다충질병적발생유관，수연전이RNA（tRNA）기인지점정개선립체기인조적10%，단타문각시연구선립체기인돌변여질병발생관계적열점。기왕고혈압유전학적연구주요집중재핵기인방면，근년래연구발현선립체DNA돌변가능삼여원발성고혈압（EH）적발생여발전，차월래월다적선립체tRNA야피보도여EH적발생화발전밀절상관。본문대선립체tRNA돌변여고혈압발병적관계급기궤제진행료종술。
Mitochondrial DNA mutation is associated with a variety of diseases. Althoughonly constituting 10% of the entire mitochondrial genome,the transfer RNA(tRNA) geneshave become a hotspotin the study concerning the relationship of the mitochondrial gene mutation with diseases. Previous studies on the genetics of hypertension mainlyconcentrated in the nuclear genes, butrecent studies found that mitochondrial DNA mutations may be involved in the occurrence and development of essential hypertension (EH).What’s more, much evidence indicated that close association was found between mitochondrial tRNA with theEH occurrence and development.In this article, we summarized the relationship between themitochondrial tRNA mutation and pathogenesis of hypertension, andreviewed the underlyingmechanism.