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

作　　者：Linghong Wang Chao Dong Ya-Guang Xi Xiulan Su 

机构地区：[1]Clinical Medical Research Center of the Affiliated Hospital, Inner Mongolia Medical University, Hohhot 010050, China

出　　处：《Acta Biochimica et Biophysica Sinica》2015年第5期325-334,共10页生物化学与生物物理学报（英文版）

基　　金：This work was supported by a grant from the National Natural Science Foundation of China （No. 81260058）.

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 associ- ation between TSC mutants and human hypertension as well as Gitelman＇s syndrome.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 associ- ation between TSC mutants and human hypertension as well as Gitelman＇s syndrome.

关 键 词：thiazide-sensitive Na^＋-Cl^- cotransporter Gitelman＇s syndrome HYPERTENSION 

分 类 号：Q987[生物学—遗传学] Q513[生物学—人类学]