Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.

Alessandro Terrinoni, Andrea Codispoti, Valeria Serra, Biagio Didona, Ernesto Bruno, Robert Nisticò, Michela Giustizieri, Marco Alessandrini, Elena Campione, Gerry Melino

Journal: Biochemical and biophysical research communications 2010;394(4):909-14

PMID: 20230788

Full Text on Elsevier Science View on PubMed

Abstract

The autosomic dominant KID Syndrome (MIM 148210), due to mutations in GJB2 (connexin 26, Cx26), is an ectodermal dysplasia with erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness. The Cx26 protein is a component of gap junction channels in epithelia, including the cochlea, which coordinates the exchange of molecules and ions. Here, we demonstrate that different Cx26 mutants (Cx26D50N and Cx26G11E) cause cell death in vitro by the alteration of intra-cellular calcium concentrations. These results help to explain the pathogenesis of both the hearing and skin phenotypes, since calcium is also a potent regulator of the epidermal differentiation process.

Address: Biochemistry Laboratory, IDI-IRCCS, C/O Department of Experimental Medicine and Biochemical Sciences, University of Rome Tor Vergata, via Montpellier 1, 00133 Rome, Italy. [email protected]

DOI: 10.1016/j.bbrc.2010.03.073

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MeSH Terms: Apoptosis, Calcium, Cells, Cultured, Connexin 26, Connexins, Ectodermal Dysplasia, Hearing Loss, Sensorineural, Humans, Ichthyosis, Ion Channel Gating, Keratosis, Mutation, Syndrome