Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties

Acta Physiologica Scandinavica
A S AminHanno L Tan


Brugada syndrome is an inherited cardiac disease with an increased risk of sudden cardiac death. Thus far Brugada syndrome has been linked only to mutations in SCN5A, the gene encoding the alpha-subunit of cardiac Na+ channel. In this study, a novel SCN5A gene mutation (D1714G) is reported, which has been found in a 57-year-old male patient. Since the mutation is located in a segment of the ion-conducting pore of the cardiac Na+ channel, which putatively determines ion selectivity, it may affect ion selectivity properties. HEK-293 cells were transfected with wild-type (WT) or D1714G alpha-subunit and beta-subunit cDNA. Whole-cell configuration of the patch-clamp technique was used to study biophysical properties at room temperature (21 degrees C) and physiological temperature (36 degrees C). This study represents the first measurements of human Na+ channel kinetics at 36 degrees C. Ion selectivity, current density, and gating properties of WT and D1714G channel were studied. D1714G channel yielded nearly 80% reduction of Na+ current density at 21 and 36 degrees C. At both temperatures, no significant changes were observed in V(1/2) values and slope factors for voltage-dependent activation and inactivation. At 36 degrees C, but ...Continue Reading


Jul 1, 1987·Biophysical Journal·J C MakielskiH A Fozzard
Apr 1, 1997·The Journal of General Physiology·R G TsushimaP H Backx
Oct 13, 2000·Circulation Research·D W WangA L George
Jan 25, 2002·Nature·Hanno L TanJeffrey R Balser
Jun 8, 2002·Molecular Genetics and Metabolism·Matteo VattaJeffrey A Towbin
Aug 9, 2002·Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc·Takanori Ikeda
Mar 26, 2003·Cardiovascular Research·Hanno L TanArthur A M Wilde
May 28, 2003·Journal of the American College of Cardiology·Charles AntzelevitchKolawanee Nademanee
Mar 17, 2004·Cardiovascular Research·Carmen R ValdiviaMichael J Ackerman

❮ Previous
Next ❯


Jan 22, 2010·Pflügers Archiv : European journal of physiology·Ahmad S AminHanno L Tan
Feb 9, 2008·Molecular Biology and Evolution·Manda Clair JostHarold H Zakon
Aug 16, 2011·Circulation. Cardiovascular Genetics·Krekwit ShinlapawittayatornIsabelle Deschênes
Sep 12, 2009·Circulation Research·Man LiuSamuel C Dudley
Jun 14, 2008·The Journal of Clinical Investigation·Ahmad S AminArthur A M Wilde
Apr 15, 2010·Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation·A S AminH L Tan
Dec 30, 2015·Progress in Biophysics and Molecular Biology·Colin H PetersPeter C Ruben
Mar 3, 2009·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Paola G MeregalliArthur A M Wilde
Jul 17, 2009·Human Mutation·Paula L HedleyMichael Christiansen
Jul 22, 2010·Cardiovascular Therapeutics·Carol Ann Remme, Connie R Bezzina
Jan 3, 2007·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Arnold E PfahnlSamuel C Dudley
Nov 26, 2008·Progress in Biophysics and Molecular Biology·Thomas Zimmer, Ralf Surber
Oct 21, 2016·Journal of Arrhythmia·Jyh-Ming Jimmy Juang, Minoru Horie
Jan 24, 2007·Molecular Pain·Chongyang HanStephen G Waxman
Jun 21, 2012·Circulation. Arrhythmia and Electrophysiology·Yuka Mizusawa, Arthur A M Wilde
Sep 12, 2018·Journal of Cardiovascular Electrophysiology·Nathan C DenhamSaagar Mahida
May 17, 2007·Journal of Cardiovascular Electrophysiology·Cecile TerrenoireRobert S Kass
Nov 22, 2019·Pediatric Cardiology·Ibrahim El-BattrawyIbrahim Akin
Oct 18, 2018·Frontiers in Cardiovascular Medicine·Arie O VerkerkCarol Ann Remme
Aug 24, 2019·Clinical Cardiology·Ibrahim El-BattrawyIbrahim Akin
Nov 15, 2012·Circulation Journal : Official Journal of the Japanese Circulation Society·Gumpanart Veerakul, Koonlawee Nademanee
Mar 14, 2021·Proceedings of the National Academy of Sciences of the United States of America·Xiaojing PanNieng Yan

❮ Previous
Next ❯

Related Concepts

Related Feeds


Arrhythmias are abnormalities in heart rhythms, which can be either too fast or too slow. They can result from abnormalities of the initiation of an impulse or impulse conduction or a combination of both. Here is the latest research on arrhythmias.

Atrial Fibrillation

Atrial fibrillation is a common arrhythmia that is associated with substantial morbidity and mortality, particularly due to stroke and thromboembolism. Here is the latest research.