ABCC8基因突变与新生儿糖尿病关系的研究进展

Research Progress of Relationship between Mutations of ABCC8 Gene and Neonatal Diabetes Mellitus

由ABCC8基因编码的磺脲类受体1(SUR1)广泛存在于胰岛β细胞、脑和肌肉组织中,它是腺苷三磷酸(ATP)敏感性钾离子通道的组成亚基之一。在胰岛β细胞中,SUR1亚基可以通过调节K_(ATP)通道的活性影响胰岛素的分泌。当ABCC8基因发生激活突变后会导致K_(ATP)通道活动发生异常,从而导致新生儿糖尿病(NDM)。当磺酰脲类药物与SUR1结合后发挥K_(ATP)通道阻滞剂的作用,可以促进胰岛素的分泌。因此,磺酰脲类药物在治疗NDM中具有重要的意义。

Sulfonylurea receptor1（ SUR1） encoded by ABCC8 gene is widely present in pancreatic β cells,brain and muscle tissue. They are subunits of the adenosine triphosphate（ ATP） sensitive potassium channels. In pancreatic β cells,the subunits can affect the secretion of insulin by regulating the activity of K_（ATP）channels. Activating mutations of ABCC8 gene can lead to abnormal activities of the K_（ATP）channels,and thus result in neonatal diabetes mellitus（ NDM）. Sulfonylurea drugs can play the role of K_（ATP）channel blockers by combination with SUR1 subunits and thus it can promote the secretion of insulin. Therefore,sulfonylurea drug is of significance for the treatment of NDM.