线粒体基因突变所致糖尿病发病机制及治疗进展

The Pathogenesis and Treatment of Diabetes Mellitus Caused by Mitochondrial Gene Mutation

对线粒体DNA突变、尤其是转移核糖核酸亮氨酸tRNALeu(UUR)基因nt3243A→G点突变在糖尿病发病机制中的作用进行综述。nt3243A→G点突变常常是导致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)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水平,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。基于其发病机制的特殊性,其诊断及治疗也有一定的特殊性。

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 IRNALeu （ UUR ） gene. This mutation assoeiates in most individual with MIDD（ maternally inherited diabetes and deafness）and MELAS （Mitochondrial encephalomyopathy,lactic acidosis, stroke-like episodes syndrome）. DNA mutation of mitochondrion can affect the production of ATP, change the intracellular content of mitochnndrial mctabolite, which will then result in especial diabetes related to DNA mutation of mitochondrion with a series of special clinical manifestation. Because of its different palhogenesis from that of other type diabetes, this kind of diabetes has different diagnosis and therapy.