Human diseases associated with connexin mutations

• Published in: Biochimica et biophysica acta. Biomembranes Vol. 1860; no. 1; pp. 192 - 201
• Main Authors: Srinivas, Miduturu, Verselis, Vytas K., White, Thomas W.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01-01-2018
• Subjects: Connexin; Connexins - genetics; Connexins - metabolism; Gap junction; Genetic disease; Genetic Diseases, Inborn - genetics; Genetic Diseases, Inborn - metabolism; Genetic Diseases, Inborn - pathology; Genetic Diseases, Inborn - therapy; Hemichannel; Humans; Mutation; Connexin; Mutation; Hemichannel; Gap junction; Genetic disease
• ISSN: 0005-2736; 1879-2642
• DOI: 10.1016/j.bbamem.2017.04.024

Gap junctions and hemichannels comprised of connexins impact many cellular processes. Significant advances in our understanding of the functional role of these channels have been made by the identification of a host of genetic diseases caused by connexin mutations. Prominent features of connexin disorders are the inability of other connexins expressed in the same cell type to compensate for the mutated one, and the ability of connexin mutants to dominantly influence the activity of other wild-type connexins. Functional studies have begun to identify some of the underlying mechanisms whereby connexin channel mutation contributes to the disease state. Detailed mechanistic understanding of these functional differences will help to facilitate new pathophysiology driven therapies for the diverse array of connexin genetic disorders. This article is part of a Special Issue entitled: Gap Junction Proteins edited by Jean Claude Herve.
•Twenty-eight human genetic diseases result from connexin mutations.•Mutations in two connexin genes encoding Cx26 and Cx43 cause fourteen disorders.•Both gap junction and hemichannel function can be compromised by mutations.•Diseases are usually restricted, despite many connexins being widely expressed.