葡萄糖激酶基因突变与功能学研究进展

Mutations of glucokinase gene and the progress in studies on its functional analysis

葡萄糖激酶(GCK)基因突变包括激活突变和失活突变,激活突变引起持续性高胰岛素血症低血糖(PHH I),完全性失活突变引起永久性新生儿糖尿病(PNDM),部分性失活突变导致成年起病的青少年糖尿病2型(MODY2)。目前已报道了近200个GCK基因突变,其中只对约1/5的突变进行了功能学研究。本文就GCK基因突变及其目前的功能学研究进展作一综述。

Mutations of glucokinase （GCK） gene include inactive mutation and active mutation. Active mutation induces persistent hyperinsulinemic hypoglycemia of infant （PHHI）. Complete inactive mutation induces permanent neonatal diabetes mellitus （PNDM）, and partial inactives mutation induces maturity-onset diabetes of the young type 2 （MODY2）. About 200 GCK gene mutations have been reported, but functional analysis only have been carried out on one fifth of these mutations. This article reviews the progress in functional analysis on GCK gene mutations.