Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F.

Abstract

The keratitis-ichthyosis-deafness (KID) syndrome is caused by mutations in the gap junctional channel protein connexin 26 (Cx26), among them the mutation Cx26S17F. Heterozygous Cx26S17F mice resemble the human KID syndrome, i.e. exhibiting epidermal hyperplasia and hearing impairments. Newborn Cx26S17F mice show a defective epidermal water barrier as well as altered epidermal lipid secretion and location. Linoleoyl ω-esterified ceramides are strongly decreased on the skin surface of Cx26S17F mice. Moreover, the epidermal calcium gradient is altered in the mutant mice. These alterations may be caused by an abnormal Cx26S17F channel function that leads to a defective epidermal water barrier, which in turn may trigger the hyperproliferation seen in the KID syndrome.

• Authors: Felicitas Bosen, Anna Celli, Debra Crumrine, Katharina vom Dorp, Philipp Ebel, Holger Jastrow, Peter Dörmann, Elke Winterhager, Theodora Mauro, Klaus Willecke
• Journal: FEBS letters (FEBS Lett) Vol. 589 Issue 15 Pg. 1904-10 (Jul 08 2015) ISSN: 1873-3468 [Electronic] England
• PMID: 26070424 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S.)
• Copyright: Copyright © 2015 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.

Chemical References

• Connexins
• GJB2 protein, human
• Gjb2 protein, mouse
• Connexin 26
• Calcium

Topics

• Animals
• Calcium (metabolism)
• Connexin 26
• Connexins (genetics)
• Deafness (metabolism)
• Disease Models, Animal
• Epidermis (metabolism)
• Female
• Ichthyosis (metabolism)
• Keratitis (metabolism)
• Lipid Metabolism
• Male
• Mice
• Microscopy, Fluorescence