DSpace Repository :: Browsing by Author "Elgoyhen, Ana"

Now showing 1 - 1 of 1

Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness
(Springer, 2016) Dalamon, Viviana; Fiori, Mariana; Figueroa, Vania; Oliva, Carolina; Del Río, Rodrigo; González, Wendy; Canan, Jonathan; Elgoyhen, Ana; Altenberg, Guillermo; Retamal, Mauricio
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.