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

Autor: Michela Giustizieri, Alessandro Terrinoni, Valeria Serra, Elena Campione, Marco Alessandrini, Andrea Codispoti, Robert Nisticò, Biagio Didona, Ernesto Bruno, Gerry Melino
Rok vydání: 2010
Předmět:
Syndrome
cells
cultured
apoptosis
ion channel gating
mutation
ichthyosis
keratosis
ectodermal dysplasia
calcium
connexins
humans
hearing loss
sensorineural
Ectodermal dysplasia
Programmed cell death
Hearing Loss
Sensorineural
Cells
Biophysics
Connexin
chemistry.chemical_element
Apoptosis
Gating
Sensorineural
Calcium
Biology
Biochemistry
Connexins
genetics
Calcium
metabolism
Cells
Cultured
Connexins
genetics
Ectodermal Dysplasia
genetics
Hearing Loss
genetics
Humans
Ichthyosis
genetics
Ion Channel Gating
genetics
Keratosis
genetics
Mutation
Syndrome
Pathogenesis
Ectodermal Dysplasia
otorhinolaryngologic diseases
medicine
Humans
genetics
Hearing Loss
Molecular Biology
Cells
Cultured
Cochlea
Genetics
Cultured
Settore BIO/14
Gap junction
Ichthyosis
Keratosis
Cell Biology
medicine.disease
Connexin 26
chemistry
Mutation
Cancer research
metabolism
Ion Channel Gating
Zdroj: Biochemical and Biophysical Research Communications. 394:909-914
ISSN: 0006-291X
DOI: 10.1016/j.bbrc.2010.03.073
Popis: 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.
Databáze: OpenAIRE
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