Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases

被引：18
作者：
Wang, Linghong [1 ]
Dong, Chao [1 ]
Xi, Ya-Guang [1 ]
Su, Xiulan [1 ]
机构：
[1] Inner Mongolia Med Univ, Affiliated Hosp, Clin Med Res Ctr, Hohhot 010050, Peoples R China
来源：
ACTA BIOCHIMICA ET BIOPHYSICA SINICA | 2015年 / 47卷 / 05期
基金：
中国国家自然科学基金;
关键词：
thiazide-sensitive Na+-Cl- cotransporter; Gitelman's syndrome; hypertension; SODIUM-CHLORIDE COTRANSPORTER; DISTAL CONVOLUTED TUBULE; GITELMANS-SYNDROME; NACL-COTRANSPORTER; BLOOD-PRESSURE; ESSENTIAL-HYPERTENSION; URINARY-BLADDER; HYPOKALEMIC ALKALOSIS; MOLECULAR PHYSIOLOGY; CHINESE PATIENTS;
D O I：
10.1093/abbs/gmv020
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
The thiazide-sensitive Na+-Cl- cotransporter (TSC) is responsible for the major sodium chloride reabsorption pathway, which is located in the apical membrane of the epithelial cells of the distal convoluted tubule. TSC is involved in several physiological activities including transepithelial ion absorption and secretion, cell volume regulation, and setting intracellular Cl- concentration below or above its electrochemical potential equilibrium. In addition, TSC serves as the target of thiazide-type diuretics that are the first line of therapy for the treatment of hypertension in the clinic, and its mutants are also reported to be associated with the hereditary disease, Gitelman's syndrome. This review aims to summarize the publications with regard to the TSC by focusing on the association between TSC mutants and human hypertension as well as Gitelman's syndrome.
引用
收藏
页码：325 / 334
页数：10
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