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

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Meigh, Louise, Hussain, Naveed, Mulkey, Daniel K. and Dale, Nicholas (2014) Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2. eLife, Volume 3 . Article number e04249. doi:10.7554/eLife.04249

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Official URL: http://dx.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.

Item Type: Journal Article
Subjects: R Medicine > RC Internal medicine
Divisions: Faculty of Science > Life Sciences (2010- )
Library of Congress Subject Headings (LCSH): Cornea -- Diseases, Deafness -- Genetic aspects, Carbon dioxide -- Physiological effect
Journal or Publication Title: eLife
Publisher: eLife sciences publications ltd.
ISSN: 2050-084X
Official Date: 24 November 2014
Dates:
DateEvent
24 November 2014Published
Volume: Volume 3
Number of Pages: 7
Article Number: Article number e04249
DOI: 10.7554/eLife.04249
Status: Peer Reviewed
Publication Status: Published
Access rights to Published version: Open Access
Funder: Medical Research Council (Great Britain) (MRC)
Grant number: G1001259 (MRC)

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