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Wiener Medizinische Wochenschrift
Erschienen in:

01.07.2012 | Kalzium in der kardialen Pathophysiologie

Arrhythmia-associated cardiac Ca2+ cycling proteins and gene mutations

verfasst von: Dr. Simon Kochhäuser, MD, Prof. Dr. Eric Schulze-Bahr, MD, Prof. Dr. Uwe Kirchhefer, MD

Erschienen in: Wiener Medizinische Wochenschrift | Ausgabe 13-14/2012

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Summary

Calcium is an important mediator in cardiac excitation and disorders in cardiac Ca2+ homeostasis have great influence on the cardiac action potential. Therefore dysfunction in regulatory proteins that are involved in Ca2+ handling can lead to the occurrence of severe arrhythmia. Although mutations in Ca2+ regulating proteins are quite rare, they can offer general insights into arrhythmogenesis. Here, we briefly review some important aspects of arrhythmia-associated mutations in Ca2+ regulating proteins with special emphasis to its associated pathophysiology.
Vorheriger Artikel Calcium handling and atrial fibrillation
Nächster Artikel Calcium handling in human heart failure—abnormalities and target for therapy
Literatur
1.
2.
Hadri L, Hajjar RJ. Calcium cycling proteins and their association with heart failure. Clin Pharmacol Ther. 2011;90(4):620–4.PubMedCrossRef
3.
Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004;119:19–31.PubMedCrossRef
4.
Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, et al. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation. 2007;15:442–9.CrossRef
5.
Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, et al. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A. 2005;102:8089–96.PubMedCrossRef
6.
Splawski I, Timothy KW, Priori SG, Napolitano C, Bloise R. Timothy Syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Gene Reviews (Internet). Seattle: University of Washington, Seattle; 1993–2006 Feb 15 (updated 2011 Apr 21).
7.
Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, et al. Brugada syndrome: report of the second consensus conference. Heart Rhythm. 2005;2(4):429–40.PubMedCrossRef
8.
Wilde AA, Postema PG, Di Diego JM, Viskin S, Morita H, Fish JM, et al. The pathophysiological mechanism underlying Brugada syndrome: depolarization versus repolarization. J Mol Cell Cardiol. 2010;49(4):543–53.PubMedCrossRef
9.
Marx SO, Reiken S, Hisamatsu Y, Jayaraman T, Burkhoff D, Rosemblit N, et al. PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts. Cell. 2000;101:365–76.PubMedCrossRef
10.
Zhang L, Kelley J, Schmeisser G, Kobayashi YM, Jones LR. Complex formation between junctin, triadin, calsequestrin, and the ryanodine receptor. Proteins of the cardiac junctional sarcoplasmic reticulum membrane. J Biol Chem. 1997;272:23389–97.PubMedCrossRef
11.
Györke I, Hester N, Jones LR, Györke S. The role of calsequestrin, triadin, and junctin in conferring cardiac ryanodine receptor responsiveness to luminal calcium. Biophys J. 2004;86:2121–8.PubMedCrossRef
12.
Hasenfuss G, Pieske B. Calcium cycling in congestive heart failure. J Mol Cell Cardiol. 2002;34:951–69.PubMedCrossRef
13.
Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 2001;103:196–200.PubMedCrossRef
14.
Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O, et al. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet. 2001;69:1378–84.PubMedCrossRef
15.
Kirchhefer U, Wehrmeister D, Postma AV, Pohlentz G, Mormann M, Kucerova D,et al. The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling. J Mol Cell Cardiol. 2010;49:95–105.PubMedCrossRef
16.
Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm. 2011;8:1308–39.PubMedCrossRef
17.
Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, et al. Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. Hum Mol Genet. 2012;21(12):2759–67.
18.
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;93:531–40.PubMedCrossRef
19.
Houle TD, Ram ML, Cala SE. Calsequestrin mutant D307H exhibits depressed binding to its protein targets and a depressed response to calcium. Cardiovasc Res. 2004;64:227–33.PubMedCrossRef
20.
Dirksen WP, Lacombe VA, Chi M, Kalyanasundaram A, Viatchenko-Karpinski S, Terentyev D, et al. A mutation in calsequestrin, CASQ2D307H, impairs Sarcoplasmic Reticulum Ca2+ handling and causes complex ventricular arrhythmias in mice. Cardiovasc Res. 2007;75:69–78.PubMedCrossRef
21.
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;91:218–25.PubMedCrossRef
22.
Priori SG, Corr PB. Mechanisms underlying early and delayed afterdepolarizations induced by catecholamines. Am J Physiol. 1990;258:H1796–805.PubMed
23.
Postma AV, Denjoy I, Kamblock J, Alders M, Lupoglazoff JM, Vaksmann G, et al. Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet. 2005;42:863–70.PubMedCrossRef
24.
Priori SG, Napolitano C, Memmi M, Colombi B, Drago F, Gasparini M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002;106:69–74.PubMedCrossRef
25.
Priori SG, Napolitano C, Schwartz PJ, Grillo M, Bloise R, Ronchetti E, et al. Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA. 2004;292:1341–4.PubMedCrossRef
26.
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;91:1512–9.PubMedCrossRef
27.
Swan H, Laitinen P, Kontula K, Toivonen L. Calcium channel antagonism reduces exercise-induced ventricular arrhythmias in catecholaminergic polymorphic ventricular tachycardia patients with RyR2 mutations. J Cardiovasc Electrophysiol. 2005;16:162–6.PubMedCrossRef
28.
Sumitomo N, Harada K, Nagashima M, Yasuda T, Nakamura Y, Aragaki Y, et al. Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death. Heart. 2003;89:66–70.PubMedCrossRef
29.
Zipes DP, Camm AJ, Borggrefe M, Buxton AE, Chaitman B, Fromer M, et al. ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Circulation. 2006;114:e385–484.PubMedCrossRef
30.
Watanabe H, Chopra N, Laver D, Hwang HS, Davies SS, Roach DE, et al. Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans. Nat Med. 2009;15:380–3.PubMedCrossRef
Metadaten
Titel
Arrhythmia-associated cardiac Ca2+ cycling proteins and gene mutations
verfasst von
Dr. Simon Kochhäuser, MD
Prof. Dr. Eric Schulze-Bahr, MD
Prof. Dr. Uwe Kirchhefer, MD
Publikationsdatum
01.07.2012
Verlag
Springer Vienna
Erschienen in
Wiener Medizinische Wochenschrift / Ausgabe 13-14/2012
Print ISSN: 0043-5341
Elektronische ISSN: 1563-258X
DOI
https://doi.org/10.1007/s10354-012-0114-z

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