Genetic control of sodium channel function

Sodium ion (Na) influx through cardiac Na channels triggers the action potential in cells of the working myocardium and the specialized conduction system. Na channels thus act as key molecular determinants of cardiac excitability and impulse propagation. Na channel dysfunction may cause life-threate...

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Bibliographic Details
Published in:Cardiovascular research 2003-03, Vol.57 (4), p.961-973
Main Authors: TAN, Hanno L, BEZZINA, Connie R, SMITS, Jeroen P. P, VERKERK, Arie O, WILDE, Arthur A. M
Format: Article
Language:English
Subjects:
Arrhythmias, Cardiac - genetics
Biological and medical sciences
Cardiac dysrhythmias
Cardiology. Vascular system
Death, Sudden, Cardiac - etiology
Heart
Humans
Long QT Syndrome - genetics
Medical sciences
Mutation
Myocardium - metabolism
Sodium Channels - genetics
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Summary:Sodium ion (Na) influx through cardiac Na channels triggers the action potential in cells of the working myocardium and the specialized conduction system. Na channels thus act as key molecular determinants of cardiac excitability and impulse propagation. Na channel dysfunction may cause life-threatening arrhythmias. Here, we review the ways in which Na channel function can be aberrant due to genetic changes. We discuss how biophysical studies of mutant Na channels combined with precise clinical phenotyping may improve our understanding of Na channel function in health and disease and may be useful as a model from which to derive improved treatment strategies for common disease.
ISSN:0008-6363
1755-3245
DOI:10.1016/S0008-6363(02)00714-9