Connexinopathies: a structural and functional glimpse

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, C...

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Published in:BMC cell biology 2016-05, Vol.17 Suppl 1 (11), p.17-17, Article S17
Main Authors: García, Isaac E, Prado, Pavel, Pupo, Amaury, Jara, Oscar, Rojas-Gómez, Diana, Mujica, Paula, Flores-Muñoz, Carolina, González-Casanova, Jorge, Soto-Riveros, Carolina, Pinto, Bernardo I, Retamal, Mauricio A, González, Carlos, Martínez, Agustín D
Format: Article
Language:English
Subjects:
Analysis
Animals
Causes of
Channelopathies - genetics
Channelopathies - metabolism
Child development deviations
Connexins - chemistry
Connexins - genetics
Connexins - metabolism
Developmental disabilities
Gap Junctions - metabolism
Gene mutations
Genetic aspects
Humans
Ion Channel Gating
Models, Molecular
Mutation - genetics
Review
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Summary: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.
ISSN:1471-2121
1471-2121
DOI:10.1186/s12860-016-0092-x