线粒体DNA突变糖尿病的特点  

The Feature of Mitochondrial Diabetes Mellitus

作　　者：韩睿[1] 宋滇平[1] 

机构地区：[1]昆明医学院第一附属医院糖尿病科,昆明650032

出　　处：《昆明医学院学报》2005年第4期113-116,共4页Journal of Kunming Medical College

基　　金：云南省教育厅资助项目(2004Z049C)

摘　　要：对线粒体DNA突变,尤其是转移核糖核酸亮氨酸tRNA(Leu,UUR)基因nt3243A→G点突变在糖尿病发病机制中的作用作一综述.nt3243A→G点突变常常是导致MIDD(母系遗传糖尿病伴耳聋)、MELAS(线粒体脑肌病、乳酸酸中毒、癫痫样发作综合征)及肾衰的常见病因.由于mtDNA突变影响ATP生成及可改变细胞内线粒体代谢产物的含量,从而可能导致与mtDNA突变有关的特殊类型糖尿病的发生,临床上出现一系列的特殊表现.This review provides a compact overview on the contribution of mutation in mtDNA to the pathogenesis of diabetes mellitus, with emphasis on the A3243G mutation in the tRNA （Leu, UUR） gene. This mutation associates in most individual with maternally inherited diabetes and deafness （MIDD）, whereas some others carry the MELAS （ mitochondrial myopathy, encephalopathy, lactic acidosis, stroke - like episodes syndrome） or a progressive kidney failure. Mutation in mtDNA can affect the ATP production and also alter the intracellular concentration of mitochondrial metabolites, which can act as signaling molecules. This may contribute to the development of particular phenotypes that are associated with Diabetic Mellitus.

关 键 词：线粒体 糖尿病 突变 MIDD 

分 类 号：R587.1[医药卫生—内分泌]