Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: Insights from a RyR2 R4496C knock-in mouse model

Circulation Research

Volumn 99, Issue 3, 2006, Pages 292-298

  Liu, Nian ^a   Colombi, Barbara ^a   Memmi, Mirella ^a   Zissimopoulos, Spyros ^b   Rizzi, Nicoletta ^a   Negri, Sara ^a   Imbriani, Marcello ^a   Napolitano, Carlo ^a   Lai, F Anthony ^b   Priori, Silvia G ^a,c  

^a IRCCS   (Italy)

^b CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

^c UNIVERSITY OF PAVIA   (Italy)

Author keywords

Cardiac electrophysiology; Ryanodine receptor; Sudden death; Transgenic mice; Ventricular tachycardia

Indexed keywords

4 [3 (4 BENZYL 1 PIPERIDINYL)PROPIONYL] 2,3,4,5 TETRAHYDRO 7 METHOXY 1,4 BENZOTHIAZEPINE; ADRENALIN; CAFFEINE; ISOPRENALINE; RYANODINE; RYANODINE RECEPTOR;

ADRENERGIC STIMULATION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARRHYTHMOGENESIS; ARTICLE; CALCIUM TRANSPORT; CATECHOLAMINERGIC SYSTEM; DEPOLARIZATION; DNA POLYMORPHISM; FEMALE; GENE MUTATION; HEART PACING; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICLE TACHYCARDIA; IN VIVO STUDY; KNOCKOUT MOUSE; MALE; MOUSE; MOUSE STRAIN; MUSCLE CELL; NONHUMAN; PRIORITY JOURNAL; RECEPTOR GENE; SARCOPLASMIC RETICULUM; WILD TYPE;

ANIMALS; ARRHYTHMIA; CAFFEINE; CELLS, CULTURED; EPINEPHRINE; MEMBRANE POTENTIALS; MICE; MICE, MUTANT STRAINS; MUTATION, MISSENSE; MYOCYTES, CARDIAC; PROTEIN BINDING; RYANODINE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; TACHYCARDIA, VENTRICULAR; TACROLIMUS BINDING PROTEINS; THIAZEPINES;

EID: 33746788063     PISSN: 00097330     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.RES.0000235869.50747.e1     Document Type: Article

References (22)

1. Coumel, P, Fidelle J, Lucet V, Attuel P, Bouvrain Y. Catecholaminergic- induced severe ventricular arrhythmias with Adams-Stokes syndrome in children: report of four cases. Br Heart J. 1978;40:28-37.
2. Leenhardt A, Lucet V, Denjoy I, Grau F, Ngoc DD, Coumel P. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation. 1995;91:1512-1519.
3. Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, Sorrentino V, Danieli GA. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 2001;103:196-200.
4. Jiang D, Xiao B, Zhang L, Chen SR. Enhanced basal activity of a cardiac Ca2+ release channel (ryanodine receptor) mutant associated with ventricular tachycardia and sudden death. Circ Res. 2002;91:218-225.
5. George CH, Higgs GV, Lai FA. Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes. Circ Res. 2003;93:531-540.
6. Lehnart SE, Wehrens XHT, Laitinen PJ, Reiken SR, Deng SX, Cheng Z, Landry DW, Kontula K, Swan H, Marks AR. Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak. Circulation. 2004;109:3208-3214.
7. Priori SG, Napolitano C. Intracellular calcium handling dysfunction and arrhythmogenesis: a new challenge for the electrophysiologist. Circ Res. 2005;97:1077-1079.
8. Wehrens XH, Lehnart SE, Huang F, Vest JA, Reiken SR, Mohler PJ, Sun J, Guatimosim S, Song LS, Rosemblit N, D'Armiento JM, Napolitano C, Memmi M, Priori SG, Lederer WJ, Marks AR. FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. Cell. 2003;113:829-840.
9. Wehrens XH, Lehnart SE, Reiken SR, Deng SX, Vest JA, Cervantes D, Coromilas J, Landry DW, Marks AR. Protection from cardiac arrhythmia through ryanodine receptor-stabilizing protein calstabin2. Science. 2004;304:292-296.
10. Xiao B, Sutherland C, Walsh MP, Chen SR. Protein kinase A phosphorylation at serine-2808 of the cardiac Ca2+-release channel (ryanodine receptor) does not dissociate 12.6-kDa FK506-binding protein (FKBP12.6). Circ Res. 2004;94:487-495.
11. Jiang D, Wang R, Xiao B, Kong H, Hunt DJ, Choi P, Zhang L, Chen SR. Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death. Circ Res. 2005;97:1173-1181.
12. Cerrone M, Colombi B, Santoro M, Raffale di Barletta M, Scelsi M, Villani L, Napolitano C, Priori SG. Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor (RyR2). Circ Res. 2005;96:e77-e82.
13. Sambrano GR, Fraser I, Han H, Ni, Y, O'Connell T, Yan, Z, Stull JT. Navigating the signalling network in mouse cardiac myocytes. Nature. 2002;420:712-714.
14. Carmody M, Mackrill JJ, Sorrentino V, O'Neill, C. FKBP12 associates tightly with the skeletal muscle type 1 ryanodine receptor, but not with other intracellular calcium release channels. FEBS Lett. 2001;505:97-102.
15. Gaburjakova M, Gaburjakova J, Reiken S, Huang F, Marx SO, Rosemblit N, Marks AR. FKBP12 binding modulates ryanodine receptor channel gating. J Biol Chem. 2001;276:16931-16935.
16. Van Acker K, Bultynck G, Rossi D, Sorrentino V, Boens N, Missiaen L, De Smedt H, Parys JB, Callewaert G. The 12 kDa FK506-binding protein, FKBP12, modulates the Ca(2+)-flux properties of the type-3 ryanodine receptor. J Cell Sci. 2004;117:1129-1137.
17. Fabiato A. Time and calcium dependence of activation and inactivation of calcium-induced release of calcium from the sarcoplasmic reticulum of a skinned canine cardiac Purkinje cell. J Gen. Physiol. 1985;85:247-289.
18. Terentyev D, Viatchenko-Karpinski S, Valdivia HH, Escobar AL, Gyorke S. Luminal Ca2+ controls termination and refractory behavior of Ca2+-induced Ca2+ release in cardiac myocytes. Circ Res. 2002;91:414-420.
19. Priori SG, Napolitano C, Memmi M, Colombi B, Drago F, Gasparini M, DeSimone L, Coltorti F, Bloise R, Keegan R, Cruz Filho FE, Vignati G, Benatar A, DeLogu A. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002;106:69-74.
20. Kaneko N. New 1,4-benzothiazepine derivative, K201, demonstrates cardioprotective effects against sudden cardiac cell death and intracellular calcium blocking action. Drug Dev Res. 1994;33:429-438.
21. Bers DM. Macromolecular complexes regulating cardiac ryanodine receptor function. J Mol. Cell Cardiol. 2004;37:417-429.
22. Thomas NL, Lai FA, George CH. Differential Ca2+ sensitivity of RyR2 mutations reveals distinct mechanisms of channel dysfunction in sudden cardiac death. Biochem Biophys Res Commun. 2005;331:231-238.