1. Structural Biology and Molecular Biophysics

Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2

  1. Louise Meigh
  2. Naveed Hussain
  3. Daniel Mulkey
  4. Nicholas Dale  Is a corresponding author
  1. University of Warwick, United Kingdom
  2. University of Connecticut Health Center, United States
  3. University of Connecticut, United States
https://doi.org/10.7554/eLife.04249
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  1. Louise Meigh
  2. Naveed Hussain
  3. Daniel Mulkey
  4. Nicholas Dale
(2014)
Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2
eLife 3:e04249.
https://doi.org/10.7554/eLife.04249
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Abstract

Mutations in connexin26 (Cx26) underlie a range of serious human pathologies. Previously we have shown that Cx26 hemichannels are directly opened by CO2 (Meigh et al., 2013). However, the effects of human disease-causing mutations on the CO2 sensitivity of Cx26 are entirely unknown. Here, we report the first connection between the CO2 sensitivity of Cx26 and human pathology, by demonstrating that Cx26 hemichannels with the mutation A88V, linked to Keratitis-Ichthyosis-Deafness syndrome, are both CO2 insensitive and associated with disordered breathing in humans.

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Author details

  1. Louise Meigh

    University of Warwick, Coventry, United Kingdom
    Competing interests
    The authors declare that no competing interests exist.

  2. Naveed Hussain

    University of Connecticut Health Center, Farmington, United States
    Competing interests
    The authors declare that no competing interests exist.

  3. Daniel Mulkey

    University of Connecticut, Storrs, United States
    Competing interests
    The authors declare that no competing interests exist.

  4. Nicholas Dale

    University of Warwick, Coventry, United Kingdom
    For correspondence
    n.e.dale@warwick.ac.uk
    Competing interests
    The authors declare that no competing interests exist.

Ethics

Human subjects: The Institutional Review Board of the Connecticut Children's Medical Center considered this under the category of a case report and thus exempt from formal review.

Copyright

© 2014, Meigh et al.

This article is distributed under the terms of the Creative Commons Attribution License permitting unrestricted use and redistribution provided that the original author and source are credited.

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  1. Louise Meigh
  2. Naveed Hussain
  3. Daniel Mulkey
  4. Nicholas Dale
(2014)
Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2
eLife 3:e04249.
https://doi.org/10.7554/eLife.04249

Share this article

https://doi.org/10.7554/eLife.04249

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