title: Emerging roles of chloride channels in human diseases.
abstract: In the past decade, there has been remarkable progress in understanding of the roles of Cl(-) channels in the development of human diseases. Genetic studies in humans have identified mutations in the genes encoding Cl(-) channels which lead to a loss of Cl(-) channel activity. These mutations are responsible for the development of a variety of deleterious diseases in muscle, kidney, bone and brain including myotonia congenita, dystrophia myotonica, cystic fibrosis, osteopetrosis and epilepsy. Recent studies indicate that some diseases may develop as a result of Cl(-) channel activation. There is growing evidence that the progression of glioma in the brain and the growth of the malaria parasite in red blood cells may be mediated through Cl(-) channel activation. These findings suggest that Cl(-) channels may be novel targets for the pharmacological treatment of a broad spectrum of diseases. This review discusses the proposed roles of abnormal Cl(-) channel activity in the pathogenesis of human diseases.
authors.affiliation: Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390-8887, USA.
authors.forename: Livia
authors.initials: L
authors.lastname: Puljak
authors.forename: Gordan
authors.initials: G
authors.lastname: Kilic
mesh_terms: D002462:Cell Membrane / Q000378:metabolism; D018118:Chloride Channels / Q000235:genetics / Q000502:physiology*; D004194:Disease; D006801:Humans; D015640:Ion Channel Gating; D009154:Mutation
chemical_list: D018118:Chloride Channels