Mutations in connexin genes and disease
Article first published online: 14 SEP 2010
© 2010 The Authors. European Journal of Clinical Investigation © 2010 Stichting European Society for Clinical Investigation Journal Foundation
European Journal of Clinical Investigation
Volume 41, Issue 1, pages 103–116, January 2011
How to Cite
Pfenniger, A., Wohlwend, A. and Kwak, B. R. (2011), Mutations in connexin genes and disease. European Journal of Clinical Investigation, 41: 103–116. doi: 10.1111/j.1365-2362.2010.02378.x
- Issue published online: 8 DEC 2010
- Article first published online: 14 SEP 2010
- Received 31 May 2010; accepted 17 August 2010
- gap junctions;
- gene mutations;
- genetic diseases
Eur J Clin Invest 2010; 41 (1): 103–116
Background Connexins are a family of transmembrane proteins that are widely expressed in the human body. Connexins play an important role in cell-cell communication and homeostasis in various tissues by forming gap junction channels, which enable a direct passage of ions or metabolites from one cell to another. Twenty-one different connexins are expressed in humans, each having distinct expression patterns and regulation properties. Knowledge on this family of proteins can be gained by making an inventory of mutations and associated diseases in human.
Design PubMed and other relevant databases were searched. In addition, key review articles were screened for relevant original publications. Sections of representative organs were photographed and annotated.
Results The crucial role of connexins is highlighted by the discovery of mutations in connexin genes which cause a variety of disorders such as myelin-related diseases, skin disorders, hearing loss, congenital cataract, or more complex syndromes such as the oculodendrodigital dysplasia. This review systematically addresses current knowledge on mutations in connexin genes and disease, focusing on the correlation between genetic defects, cellular phenotypes and clinical manifestations.
Conclusions The review of diseases caused by mutations in connexin genes highlights the essential nature of connexin function and intercellular communication in tissue homeostasis.