INGEBI 02650
INSTITUTO DE INVESTIGACIONES EN INGENIERIA GENETICA Y BIOLOGIA MOLECULAR "DR. HECTOR N TORRES"
Unidad Ejecutora - UE
artículos
Título:
Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness
Autor/es:
DALAMÓN V; FIORI MC; FIGUEROA CA; OLIVA VA; DEL RIO R; GONZALEZ W; CANAN J; ELGOYHEN AB; ALTENBERG G; RETAMAL MA
Revista:
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
Editorial:
SPRINGER
Referencias:
Lugar: Berlin; Año: 2015 vol. 468 p. 909 - 918
ISSN:
0031-6768
Resumen:
Abstract Gap-junction channels (GJCs) are formed by headto-head association of two hemichannels (HCs, connexinhexamers). HCs and GJCs are permeable to ions and hydrophilicmolecules of up to Mr ~1 kDa. Hearing impairment ofgenetic origin is common, and mutations of connexin 26(Cx26) are its major cause. We recently identified two novelCx26 mutations in hearing-impaired subjects, L10P andG109V. L10P forms functional GJCs with slightly alteredvoltage dependence and HCs with decrease ATP/cationicdye selectivity. G109V does not form functional GJCs, butforms functional HCs with enhanced extracellular Ca2+ sensitivityand subtle alterations in voltage dependence and ATP/cationic dye selectivity. Deafness associated with G109Vcould result from decreased GJCs activity, whereas deafnessassociated to L10P may have a more complex mechanism thatinvolves changes in HC permeability.
