title: Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases.
abstract: 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.
authors.affiliation: Clinical Medical Research Center of the Affiliated Hospital, Inner Mongolia Medical University, Hohhot 010050, China.
authors.forename: Linghong
authors.initials: L
authors.lastname: Wang
authors.affiliation: Clinical Medical Research Center of the Affiliated Hospital, Inner Mongolia Medical University, Hohhot 010050, China.
authors.forename: Chao
authors.initials: C
authors.lastname: Dong
authors.affiliation: Clinical Medical Research Center of the Affiliated Hospital, Inner Mongolia Medical University, Hohhot 010050, China.
authors.forename: Ya-Guang
authors.initials: YG
authors.lastname: Xi
authors.affiliation: Clinical Medical Research Center of the Affiliated Hospital, Inner Mongolia Medical University, Hohhot 010050, China xlsu@hotmail.com.
authors.forename: Xiulan
authors.initials: X
authors.lastname: Su
mesh_terms: D005838:Genotype; D053579:Gitelman Syndrome / Q000235:genetics; D006801:Humans; D006973:Hypertension / Q000235:genetics; D020125:Mutation, Missense; D010641:Phenotype; D011110:Polymorphism, Genetic; D049992:Sodium Chloride Symporters / Q000235:genetics / Q000378:metabolism; D064486:Solute Carrier Family 12, Member 3 / Q000235:genetics / Q000378:metabolism; D049971:Thiazides / Q000494:pharmacology
chemical_list: C578874:SLC12A3 protein, human; D049992:Sodium Chloride Symporters; D064486:Solute Carrier Family 12, Member 3; D049971:Thiazides
keywords: Gitelman's syndrome; hypertension; thiazide-sensitive Na+–Cl− cotransporter