Emerging roles of chloride channels in human diseases
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- 作者：Livia Puljak and Gordan Kilic
- 关键词：Cl− ; channels ; Cystic fibrosis ; Osteopetrosis ; Epilepsy ; Glioma ; Malaria
- 刊名：Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease
- 出版年：2006
- 出版时间：April 2006
- 年：2006
- 卷：1762
- 期：4
- 页码：404-413
- 全文大小：245 K
文摘
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.