肾上腺腺瘤中KCNJ5基因体细胞突变的研究进展  

Research Advance in KCNJ5 Gene Somatic Mutations in Patients with Aldosterone-producing Adenoma

作　　者：邵丹[1] 李南方[2] 

机构地区：[1]石河子大学医学院,新疆石河子832000 [2]新疆维吾尔自治区人民医院高血压中心新疆高血压研究所,乌鲁木齐830001

出　　处：《医学综述》2014年第2期242-244,共3页Medical Recapitulate

基　　金：国家自然科学基金(81160109)

摘　　要：肾上腺腺瘤为原发性醛固酮增多症的一种常见病因,人类KCNJ5基因编码G蛋白偶联的内向整流型钾通道(GIRK4)蛋白,肾上腺腺瘤组织中KCNJ5基因突变导致GIRK4蛋白结构和功能发生改变,GIRK4蛋白通道离子选择性缺失,且突变型与野生型临床表型之间的差异比较结果提示突变型临床表型更严重。目前已有多项研究发现肾上腺腺瘤患者中KCNJ5基因存在多种体细胞突变,这些突变可能与肾上腺腺瘤的发生、发展密切相关,原发性醛固酮增多症可能存在更多的临床亚型。Aldosterone-producing adenoma is a common cause of primary aldosteronism. KCNJ5 gene codes G protein gated inward rectifier K ＋ channel 4 （ GIRK4 ）, the alter of which can lead to the changes of structure and function of GIRK4 in aldosterone-producing adenoma,and GIRK4 protein ion channel selectivity missing. The subjects with mutations had more serious condition than subjects without mutations after compa- ring their clinical phenotype. To date, a number of studies found KCNJ5 gene somatic mutations existence in patients with aldosterone-producing adenoma. These mutations may have close relationships with the develop- ment of aldosterone-producing adenoma. And primary aldosteronism may have more clinical subtypes.

关 键 词：肾上腺腺瘤 KCNJ5基因 体细胞突变 

分 类 号：R544[医药卫生—心血管疾病]