Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO(2)

Mutations in connexin26 (Cx26) underlie a range of serious human pathologies. Previously we have shown that Cx26 hemichannels are directly opened by CO(2) (Meigh et al., 2013). However the effects of human disease-causing mutations on the CO(2) sensitivity of Cx26 are entirely unknown. Here, we repo...

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Detalles Bibliográficos
Autores principales: Meigh, Louise, Hussain, Naveed, Mulkey, Daniel K, Dale, Nicholas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2014
Materias:
Biophysics and Structural Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270064/
https://www.ncbi.nlm.nih.gov/pubmed/25422938
http://dx.doi.org/10.7554/eLife.04249
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author Meigh, Louise
Hussain, Naveed
Mulkey, Daniel K
Dale, Nicholas
author_facet Meigh, Louise
Hussain, Naveed
Mulkey, Daniel K
Dale, Nicholas
author_sort Meigh, Louise
collection PubMed
description Mutations in connexin26 (Cx26) underlie a range of serious human pathologies. Previously we have shown that Cx26 hemichannels are directly opened by CO(2) (Meigh et al., 2013). However the effects of human disease-causing mutations on the CO(2) sensitivity of Cx26 are entirely unknown. Here, we report the first connection between the CO(2) sensitivity of Cx26 and human pathology, by demonstrating that Cx26 hemichannels with the mutation A88V, linked to Keratitis-Ichthyosis-Deafness syndrome, are both CO(2) insensitive and associated with disordered breathing in humans. DOI: http://dx.doi.org/10.7554/eLife.04249.001
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spelling pubmed-42700642015-01-29 Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO(2) Meigh, Louise Hussain, Naveed Mulkey, Daniel K Dale, Nicholas eLife Biophysics and Structural Biology Mutations in connexin26 (Cx26) underlie a range of serious human pathologies. Previously we have shown that Cx26 hemichannels are directly opened by CO(2) (Meigh et al., 2013). However the effects of human disease-causing mutations on the CO(2) sensitivity of Cx26 are entirely unknown. Here, we report the first connection between the CO(2) sensitivity of Cx26 and human pathology, by demonstrating that Cx26 hemichannels with the mutation A88V, linked to Keratitis-Ichthyosis-Deafness syndrome, are both CO(2) insensitive and associated with disordered breathing in humans. DOI: http://dx.doi.org/10.7554/eLife.04249.001 eLife Sciences Publications, Ltd 2014-11-25 /pmc/articles/PMC4270064/ /pubmed/25422938 http://dx.doi.org/10.7554/eLife.04249 Text en Copyright © 2014, Meigh et al http://creativecommons.org/licenses/by/4.0/ This article is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use and redistribution provided that the original author and source are credited.
spellingShingle Biophysics and Structural Biology
Meigh, Louise
Hussain, Naveed
Mulkey, Daniel K
Dale, Nicholas
Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO(2)
title Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO(2)
title_full Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO(2)
title_fullStr Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO(2)
title_full_unstemmed Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO(2)
title_short Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO(2)
title_sort connexin26 hemichannels with a mutation that causes kid syndrome in humans lack sensitivity to co(2)
topic Biophysics and Structural Biology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270064/
https://www.ncbi.nlm.nih.gov/pubmed/25422938
http://dx.doi.org/10.7554/eLife.04249
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