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Pflugers Arch
2016 May 01;4685:909-18. doi: 10.1007/s00424-016-1788-7.
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Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness.
Dalamon V
,
Fiori MC
,
Figueroa VA
,
Oliva CA
,
Del Rio R
,
Gonzalez W
,
Canan J
,
Elgoyhen AB
,
Altenberg GA
,
Retamal MA
.
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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 Ca(2+) 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.
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