Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness
Date
2016
Type:
Artículo
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ORCID:
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Publisher
Springer
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Abstract
Gap-junction channels (GJCs) are formed by head-to-head association of two hemichannels (HCs, connexin hexamers). HCs and GJCs are permeable to ions and hydrophilic molecules of up to Mr ~1 kDa. Hearing impairment of genetic origin is common, and mutations of connexin 26 (Cx26) are its major cause. We recently identified two novel Cx26 mutations in hearing-impaired subjects, L10P and G109V. L10P forms functional GJCs with slightly altered voltage dependence and HCs with decrease ATP/cationic dye selectivity. G109V does not form functional GJCs, but forms functional HCs with enhanced extracellular Ca2+ sensitivity and subtle alterations in voltage dependence and ATP/cationic dye selectivity. Deafness associated with G109V could result from decreased GJCs activity, whereas deafness associated to L10P may have a more complex mechanism that involves changes in HC permeability.
Description
Centro de Fisiología Celular e Integrativa
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Citation
Dalamon V, Fiori MC, Figueroa VA, Oliva CA, Del Rio R, Gonzalez W, Canan J, Elgoyhen AB, Altenberg GA, Retamal MA. Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness. Pflugers Arch. 2016 May;468(5):909-18.
Keywords
Deafness, Hemichannels, Connexins, Gap-junction channels, Ion channel, Mutation