Emerging roles of chloride channels in human diseases

Livia Puljak, Gordan Kilic

Research output: Contribution to journalReview articlepeer-review

45 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)404-413
Number of pages10
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Volume1762
Issue number4
DOIs
StatePublished - Apr 2006

Keywords

  • Cl channels
  • Cystic fibrosis
  • Epilepsy
  • Glioma
  • Malaria
  • Osteopetrosis

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology

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