Document Detail


Genetic Na+ channelopathies and sinus node dysfunction.
MedLine Citation:
PMID:  19027778     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Voltage-gated Na+ channels are transmembrane proteins that produce the fast inward Na+ current responsible for the depolarization phase of the cardiac action potential. They play fundamental roles in the initiation, propagation, and maintenance of normal cardiac rhythm. Inherited mutations in SCN5A, the gene encoding the pore-forming alpha-subunit of the cardiac-type Na+ channel, result in a spectrum of disease entities termed Na+ channelopathies. These include multiple arrhythmic syndromes, such as the long QT syndrome type 3 (LQT3), Brugada syndrome (BrS), an inherited cardiac conduction defect (CCD), sudden infant death syndrome (SIDS) and sick sinus syndrome (SSS). To date, mutational analyses have revealed more than 200 distinct mutations in SCN5A, of which at least 20 mutations are associated with sinus node dysfunction including SSS. This review summarizes recent findings bearing upon: (i) the functional role of distinct voltage-gated Na+ currents in sino-atrial node pacemaker function; (ii) genetic Na+ channelopathy and its relationship to sinus node dysfunction.
Authors:
Ming Lei; Christopher L-H Huang; Yanmin Zhang
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2008-11-05
Journal Detail:
Title:  Progress in biophysics and molecular biology     Volume:  98     ISSN:  0079-6107     ISO Abbreviation:  Prog. Biophys. Mol. Biol.     Publication Date:    2008 Oct-Nov
Date Detail:
Created Date:  2009-03-16     Completed Date:  2009-05-11     Revised Date:  2011-07-22    
Medline Journal Info:
Nlm Unique ID:  0401233     Medline TA:  Prog Biophys Mol Biol     Country:  England    
Other Details:
Languages:  eng     Pagination:  171-8     Citation Subset:  IM    
Affiliation:
Cardiovascular Group, School of Clinical and Laboratory Sciences, The University of Manchester, Grafton Street, Manchester M13 9NT, UK. ming.lei@manchester.ac.uk
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MeSH Terms
Descriptor/Qualifier:
Animals
Humans
Mice
Models, Molecular
Muscle Proteins / chemistry,  genetics,  physiology
Mutation
Sick Sinus Syndrome / genetics*,  physiopathology
Sinoatrial Node / physiology,  physiopathology
Sodium Channels / chemistry,  deficiency,  genetics*,  physiology
Grant Support
ID/Acronym/Agency:
//British Heart Foundation; //Medical Research Council; //Wellcome Trust
Chemical
Reg. No./Substance:
0/Muscle Proteins; 0/Sodium Channels; 0/sodium channel protein type 5 subunit alpha

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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