ATP结合盒转运蛋白亚家族C成员8基因突变相关疾病研究进展  

Research progress of disease related to ATP binding cassette subfamily C member 8 gene mutation

作　　者：聂辰宇 吕晓宇 侯新国[1] Nie Chenyu;Lyu Xiaoyu;Hou Xinguo(Department of Endocrinology,Qilu Hospital,Cheeloo College of Medicine,Shandong University,Jinan 250012,Shandong,China)

机构地区：[1]山东大学齐鲁医院内分泌科,山东济南250012

出　　处：《中国医学前沿杂志（电子版）》2023年第12期42-49,共8页Chinese Journal of the Frontiers of Medical Science(Electronic Version)

摘　　要：ATP结合盒转运蛋白亚家族C成员8 (ATP binding cassette subfamily C member 8,ABCC8)基因编码磺脲受体1 (sulfonylurea receptor 1,SUR1)亚基,该亚基是腺苷三磷酸(adenosine triphosphate,ATP)敏感性钾离子通道(ATP-sensitive potassium channel,KATP通道)的一部分。在胰岛β细胞中,SUR1亚基通过影响KATP通道调控胰岛素分泌。ABCC8的致病突变主要包括激活和失活突变两种类型,不同类型、相同类型不同结构域的突变引起疾病的临床表现、生化特征都不尽相同。对典型的临床表现及基因突变特点之间关系的深入认识有助于对该类疾病的精准诊断与治疗。ABCC8 gene codes sulfonylurea receptor 1(SUR1)subunit,is part of adenosine triphosphate(ATP)-sensitive potassium channels(KATP channels).In isletβcells,SUR1 subunits regulate insulin secretion by affecting KATP channels.The pathogenic mutations of ABCC8 mainly include two types:activating mutations and inactivating mutations.Different types and different domains of the same type of mutations cause different clinical manifestations and biochemical characteristics.An in-depth understanding of the relationship between typical clinical manifestations and gene mutation characteristics can contribute to the accurate diagnosis and treatment of this type of diseases.

关 键 词：ABCC8基因 SUR1 新生儿糖尿病 先天性高胰岛素血症 青少年起病的成人型糖尿病 

分 类 号：R363[医药卫生—病理学]