Document Detail

Cardiac connexins, mutations and arrhythmias.
MedLine Citation:
PMID:  22382502     Owner:  NLM     Status:  Publisher    
PURPOSE OF REVIEW: Connexins are the pore forming subunits of gap junction channels. They are essential for cardiac action potential propagation. Connexins are modified at the transcriptional or posttranslational levels under pathological states such as cardiac hypertrophy or ischemia, thus contributing to the arrhythmogenic substrate. However, the relation between nucleotide substitutions in the connexin gene and the occurrence of cardiac arrhythmias remains largely unexplored. RECENT FINDINGS: Recent studies have reported an association between nucleotide substitutions in the connexin40 (Cx40) and connexin43 (Cx43) genes (GJA5 and GJA1, respectively) and cardiac arrhythmias. Of note, however, germline mutations in Cx43 are considered causative of oculodentodigital dysplasia, a pleiotropic syndrome wherein cardiac manifestations are notoriously absent. SUMMARY: Here, we review some of the current knowledge on the association between cardiac connexins and inherited arrhythmias.
Mario Delmar; Naomasa Makita
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-2-29
Journal Detail:
Title:  Current opinion in cardiology     Volume:  -     ISSN:  1531-7080     ISO Abbreviation:  -     Publication Date:  2012 Feb 
Date Detail:
Created Date:  2012-3-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8608087     Medline TA:  Curr Opin Cardiol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
aThe Leon H Charney Division of Cardiology, New York University School of Medicine, New York, New York, USA bDepartment of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
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