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Cardiovascular Research 2004 64(1):3-5; doi:10.1016/j.cardiores.2004.07.018
© 2004 by European Society of Cardiology
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Copyright © 2004, European Society of Cardiology

Mutant cardiac ryanodine receptors and ventricular arrhythmias: is ‘gain-of-function’ obligatory?

Ana Maria Gomez and Sylvain Richard*

Physiopathologie Cardiovasculaire, INSERM U637, Université Montpellier 1, CHU Arnaud de Villeneuve, 371 Ave. du doyen Gaston Giraud 34295 Montpellier Cedex 5, France

* Corresponding author. Tel.: +33 467 41 52 41; fax: +33 467 41 52 42. E-mail address: srichard@montp.inserm.fr

Received 22 July 2004; accepted 26 July 2004

The first 10% of the full text of this article appears below.

See article by Thomas et al. [1] (pages 52–60) in this issue.

In this issue of Cardiovascular Research, Thomas et al. [1] evidence functional differences among sudden cardiac death (SCD)-linked ryanodine receptors (RyR2) mutants. They challenge the conventional view that arrhythmogenic disorders associated with RyR2 mutations result exclusively from ‘gain-of-function’ channelopathies generating aberrant spontaneous Ca2+ release [2–4]. Thomas et al. [1] now report a ‘loss-of-function’ phenotype of one RyR2 mutant associated with SCD.


   1. RyR2 regulates cardiac contraction and rhythm
 
The RyR2 is primarily involved in cardiac contractile function. At each heartbeat, membrane depolarization during an action potential (AP) activates voltage-dependent L-type Ca2+ channels (L-VDCC), generating transmembrane Ca2+ influx (ICaL). ICaL triggers Ca2+ release via sarcoplasmic reticulum (SR) Ca2+ release channels (RyR2). This Ca2+-induced Ca2+ release (CICR) amplification step provides the amount of Ca2+ . . . [Full Text of this Article]


   2. RyR2 and ventricular arrhythmia
 

   3. Sudden cardiac death related to RyR2 mutations
 

   4. ‘Gain’ vs. ‘loss-of-function’ of RyR2 mutants
 

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