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-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.
Tan
Hanno L
HL
Experimental and Molecular Cardiology Group, Department of Cardiology, Academic Medical Center, Room M0-052, P.O. Box 22700, 1100 DE, Amsterdam, The Netherlands. h.l.tan@amc.uva.nl <h.l.tan@amc.uva.nl>
Bezzina
Connie R
CR
Smits
Jeroen P P
JP
Verkerk
Arie O
AO
Wilde
Arthur A M
AA
D001145:Arrhythmias, Cardiac / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000209:etiology; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics; D009154:Mutation; D009206:Myocardium / Q000378:metabolism*; D015222:Sodium Channels / Q000235:genetics*
D015222:Sodium Channels