AI Article Synopsis
- KID Syndrome is an autosomal dominant disorder caused by mutations in the GJB2 gene, leading to skin lesions, eye issues, and severe hearing loss.
- The protein Cx26, encoded by GJB2, is essential for gap junctions in the body’s epithelial tissues, including those in the inner ear.
- Research shows that specific mutations in Cx26 disrupt calcium levels within cells, contributing to the disease's skin and hearing symptoms, as calcium is crucial for skin cell development.
Article 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.
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| http://dx.doi.org/10.1016/j.bbrc.2010.03.073 | DOI Listing |
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