Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 25422938.
- Also identified by DOI 10.7554/eLife.04249 and PMC identifier 4270064.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
<title>Abstract</title>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.
Medical subject headings
- Carbon Dioxide
- Connexins
- Deafness
- Ichthyosis
- Keratitis
- Mutation