Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness

Viviana Dalamon, Mariana C. Fiori, Vania A. Figueroa, Carolina A. Oliva, Rodrigo Del Rio, Wendy Gonzalez, Jonathan Canan, Ana B. Elgoyhen, Guillermo A. Altenberg, Mauricio A. Retamal

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)1-10
Number of pages10
JournalPflugers Archiv European Journal of Physiology
DOIs
StateAccepted/In press - Jan 14 2016
Externally publishedYes

Keywords

  • Connexins
  • Deafness
  • Gap-junction channels
  • Hemichannels
  • Ion channel
  • Mutation

ASJC Scopus subject areas

  • Physiology
  • Clinical Biochemistry
  • Physiology (medical)

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