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

Abstract
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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

Louise Meigh

University of Warwick, Coventry, United Kingdom

Competing interests
The authors declare that no competing interests exist.
Naveed Hussain

University of Connecticut Health Center, Farmington, United States

Competing interests
The authors declare that no competing interests exist.
Daniel Mulkey

University of Connecticut, Storrs, United States

Competing interests
The authors declare that no competing interests exist.
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

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.