The role of connexins in ear and skin physiology - Functional insights from disease-associated mutations

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101 Scopus citations


Defects in several different connexins have been associated with several different diseases. The most common of these is deafness, where a few mutations in connexin (Cx) 26 have been found to contribute to over 50% of the incidence of non-syndromic deafness in different human populations. Other mutations in Cx26 or Cx30 have also been associated with various skin phenotypes linked to deafness (palmoplanta keratoderma, Bart-Pumphrey syndrome, Vohwinkel syndrome, keratitis-ichthyosis-deafness syndrome, etc.). The large array of disease mutants offers unique opportunities to gain insights into the underlying function of gap junction proteins and their channels in the normal and pathogenic physiologies of the cochlea and epidermis. This review focuses on those mutants where the impact on channel function has been assessed, and correlated with the disease phenotype, or organ function in knock-out mouse models. These approaches have provided evidence supporting a role of gap junctions and hemichannels in K+ removal and recycling in the ear, as well as possible roles for nutrient passage, in the cochlea. In contrast, increases in hemichannel opening leading to increased cell death, were associated with several keratitis-ichthyosis-deafness syndrome skin disease/hearing mutants. In addition to providing clues for therapeutic strategies, these findings allow us to better understand the specific functions of connexin channels that are important for normal tissue function. This article is part of a Special Issue entitled: The communicating junctions, roles and dysfunctions.

Original languageEnglish (US)
Pages (from-to)167-178
Number of pages12
JournalBiochimica et Biophysica Acta - Biomembranes
Issue number1
StatePublished - Jan 2013


  • Connexin 26
  • Connexin 30
  • Deafness
  • Hemichannel
  • K recycling
  • Skin disease

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Cell Biology


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