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

Research output: Contribution to journalArticlepeer-review

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. Crown

Original languageEnglish
Pages (from-to)909-914
Number of pages6
JournalBiochemical and Biophysical Research Communications
Volume394
Issue number4
DOIs
Publication statusPublished - Apr 16 2010

Keywords

  • Cell death
  • Connexin
  • Deafness
  • Gap junctions
  • KID Syndrome
  • Mutations

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Cell Biology
  • Molecular Biology

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