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

作　　者：朱静[1] 何茳萍[1] 张光亚 张丹丹[1] 陈凤玲[2] 

机构地区：[1]上海交通大学医学院,上海200000 [2]上海交通大学医学院附属第九人民医院内分泌科,上海201900

出　　处：《医学综述》2017年第12期2424-2428,共5页Medical Recapitulate

摘　　要：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.

关 键 词：新生儿糖尿病 ABCC8 磺脲类受体1 突变 

分 类 号：R587.1[医药卫生—内分泌]