Connexinopathies: a structural and functional glimpse

BMC Cell Biology

Review

Amaury Pupo¹  Paula Mujica¹  Isaac E. García¹  Oscar Jara¹  Bernardo I. Pinto¹  Carolina Soto-Riveros¹  Jorge González-Casanova¹  Agustín D. Martínez¹  Pavel Prado¹  Carlos González¹  Diana Rojas-Gómez¹  Carolina Flores-Muñoz¹  Mauricio A. Retamal² 

[1] Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile;Centro de Fisiología Celular e Integrativa, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile;

关键词: Connexins;    hemichannels;    gap junction channels;    structure and function;    human genetic disease;   

DOI  :  10.1186/s12860-016-0092-x

来源: Springer

【 摘 要 】

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.

【 授权许可】

Unknown   
© García et al. 2016. This article is published under license to BioMed Central Ltd. Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.