线粒体基因突变与糖尿病的相关性研究进展  

Study on Mitochondrial Gene Mutation Associated with Diabetes Mellitus

作　　者：王鉴[1] 顾鸣敏[1] 

机构地区：[1]上海交通大学医学院医学遗传学教研室,上海200025

出　　处：《现代生物医学进展》2012年第24期4752-4756,共5页Progress in Modern Biomedicine

基　　金：国家自然科学基金项目资助(31071107)

摘　　要：线粒体DNA(mtDNA)突变可引起多种遗传性疾病,其中包括糖尿病。与mtDNA突变相关的糖尿病中最常见的变异是tR-NALeu(UUR)]3243 A→G。文章描述了mtDNA线粒体突变与糖尿病的相关性,介绍了线粒体糖尿病的临床特点和发病机制,概括了线粒体糖尿病相关变异基因位点,重点介绍了m.3243A→G、3310C→T、16189T→C基因突变与线粒体糖尿病病理生理的联系。文章认为mtDNA突变位点的研究为糖尿病的发生机制提供新的视角,也为糖尿病的治疗提供了新方向。Mutations in mitochondrail DNA （mtDNA） can lead to various genetic diseases, including diabetes mellitus. The most common mutation associated with mtDNA mutation is tRNALeu （UUR）] 3243 A→G. This article describes the links between mtDNA and diabetes mellitus, and makes an introduction of clinical characteristics and pathogenesis of diabetes mellitus, summarizes several mu- tational genetic loci associated with diabetes mellitus, and mainly introduces mutational sites m.3243A→G, 3310C→T, 16189T→C as- sociated with pathophysiology of maternally inherited diabetes. The authors believe that the study of genetic loci mutations provides new insights of diabetic pathogenesis and offers new directions for treatment of diabetes mellitus.

关 键 词：糖尿病 线粒体 基因突变 遗传病 发病机制 

分 类 号：R587.1[医药卫生—内分泌] Q75[医药卫生—内科学]