线粒体tRNALeu基因突变导致糖尿病分子机制进展

尽管线粒体糖尿病被发现有多个致病点突变,但tRNALeu(UUR)3243A>G突变仍是目前国际上惟一公认的位点.胰岛β细胞过早的功能衰退和凋亡,胰岛素合成减少以及ATP/ADP介导的胰岛分泌功能障碍可能是该位点突变致糖尿病发生发展的主要原因.本文就该突变类型所致糖尿病的分子发病机制作一综述.

Advances in the molecular mechanism of diabetes induced by mitochondrial tRNALeu gene mutation

It is still internationally recognized that tRNALeu(UUR)3243A > G mutation is the only point mutation inducing mitochondrial diabetes, though many other point mutations have been detected. Enhanced aging of pancreatic beta-cells, a reduced capacity of these cells to synthesize large amounts of insulin, and changes in the ATP/ADP-mediated setting of insulin secretion by beta-cells, seem to be the major pathogenic factors that makes this mutation involved in the development of diabetes. The present review addresses the molecular pathogenesis by which this mutation leads to diabetes.