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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 summarizes the role of mitochondrial DNA mutations, especially nt3243A → G, in the pathogenesis of diabetes, and the point mutation of nt3243A → G often leads to the development of MIDD (maternal diabetes mellitus Deafness), MELAS (common cause of mitochondrial encephalomyopathy, lactic acidosis, epilepsy syndrome) and renal failure.MTDNA mutations affect the production of ATP and can change the content of intracellular mitochondrial metabolites, which may lead to mtDNA mutations The occurrence of a particular type of diabetes, a series of special clinical manifestations.