Emerging roles of chloride channels in human diseases

Livia Puljak, Gordan Kilic

Research output: Contribution to journalArticle

41 Citations (Scopus)

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

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Chloride Channels
Myotonia Congenita
Osteopetrosis
Myotonic Dystrophy
Mutation
Brain
Human Development
Cystic Fibrosis
Glioma
Malaria
Epilepsy
Parasites
Erythrocytes
Pharmacology
Kidney
Bone and Bones
Muscles
Growth
Genes

Keywords

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

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Biophysics

Cite this

Emerging roles of chloride channels in human diseases. / Puljak, Livia; Kilic, Gordan.

In: Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1762, No. 4, 04.2006, p. 404-413.

Research output: Contribution to journalArticle

Puljak, Livia ; Kilic, Gordan. / Emerging roles of chloride channels in human diseases. In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 2006 ; Vol. 1762, No. 4. pp. 404-413.
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