Connexinopathies: a structural and functional glimpse. Issue 1 (May 2016)

• Record Type: Journal Article
• Authors: García, Isaac; Prado, Pavel; Pupo, Amaury; Jara, Oscar; Rojas-Gómez, Diana; Mujica, Paula; Flores-Muñoz, Carolina; González-Casanova, Jorge; Soto-Riveros, Carolina; Pinto, Bernardo; Retamal, Mauricio; González, Carlos; Martínez, Agustín
• Is Part Of: BMC cell biology. Volume 17:Issue 1(2016)
• Page Start: 71
• Page End: 87
• Publication Date: 2016-05
• Subjects: Connexins -- hemichannels -- gap junction channels -- structure and function -- human genetic disease; Cytology -- Periodicals; 571.605
• DOI: 10.1186/s12860-016-0092-x
• Languages: English
• ISSNs: 1471-2121

Abstract

Abstract Mutations in human connexin (Cx) genes have been related to diseases, which we termed connexinopathies. Such hereditary disorders include nonsyndromic or syndromic deafness (Cx26, Cx30), Charcot Marie Tooth disease (Cx32), occulodentodigital dysplasia and cardiopathies (Cx43), and cataracts (Cx46, Cx50). Despite the clinical phenotypes of connexinopathies have been well documented, their pathogenic molecular determinants remain elusive. The purpose of this work is to identify common/uncommon patterns in channels function among Cx mutations linked to human diseases. To this end, we compiled and discussed the effect of mutations associated to Cx26, Cx32, Cx43, and Cx50 over gap junction channels and hemichannels, highlighting the function of the structural channel domains in which mutations are located and their possible role affecting oligomerization, gating and perm/selectivity processes.