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Human Molecular Genetics, 2001, Vol. 10, No. 3 189-194
© 2001 Oxford University Press

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

Natascia Tiso1,+, Dietrich A. Stephan2,+, Andrea Nava3, Alessia Bagattin1, Joseph M. Devaney2,5, Fabio Stanchi1, Gaelle Larderet1, Bhoomi Brahmbhatt2, Kevin Brown2, Barbara Bauce3, Michela Muriago3, Cristina Basso4, Gaetano Thiene4, Gian Antonio Danieli1,§ and Alessandra Rampazzo1

1Department of Biology, 3Department of Cardiology and 4Department of Pathology, University of Padova, 35121 Padova, Italy, 2Research Centre for Genetic Medicine, Children’s National Medical Centre, Washington, DC 20010, USA, 5Transgenomics Inc., Gaithersburg, MD 20878, USA

Arrhythmogenic right ventricular dysplasia type 2 (ARVD2, OMIM 600996) is an autosomal dominant cardiomyopathy, characterized by partial degeneration of the myocardium of the right ventricle, electrical instability and sudden death. The disease locus was mapped to chromosome 1q42–q43. We report here on the physical mapping of the critical ARVD2 region, exclusion of two candidate genes (actinin 2 and nidogen), elucidation of the genomic structure of the cardiac ryanodine receptor gene (RYR2) and identification of RYR2 mutations in four independent families. In myocardial cells, the RyR2 protein, activated by Ca2+, induces the release of calcium from the sarcoplasmic reticulum into the cytosol. RyR2 is the cardiac counterpart of RyR1, the skeletal muscle ryanodine receptor, involved in malignant hyperthermia (MH) susceptibility and in central core disease (CCD). The RyR2 mutations detected in the present study occurred in two highly conserved regions, strictly corresponding to those where mutations causing MH or CCD are clustered in the RYR1 gene. The detection of RyR2 mutations causing ARVD2, reported in this paper, opens the way to pre-symptomatic detection of carriers of the disease in childhood, thus enabling early monitoring and treatment.

+ These authors contributed equally to this work

§ To whom correspondence should be addressed. Tel: +39 049 8276215; Fax: +39 049 8276209; Email: danieli@bio.unipd.it


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 CirculationHome page
F. Marcus, J. A. Towbin, W. Zareba, A. Moss, H. Calkins, M. Brown, and K. Gear
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): A Multidisciplinary Study: Design and Protocol
Circulation, June 17, 2003; 107(23): 2975 - 2978.
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 HeartHome page
M Scoote, P A Poole-Wilson, and A J Williams
The therapeutic potential of new insights into myocardial excitation-contraction coupling
Heart, April 1, 2003; 89(4): 371 - 376.
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 Circ. Res.Home page
C. R. Bezzina, M. B. Rook, W.A. Groenewegen, L. J. Herfst, A. C. van der Wal, J. Lam, H. J. Jongsma, A. A.M. Wilde, and M. M.A.M. Mannens
Compound Heterozygosity for Mutations (W156X and R225W) in SCN5A Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in the Conduction System
Circ. Res., February 7, 2003; 92(2): 159 - 168.
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 Am. J. Physiol. Heart Circ. Physiol.Home page
B. London, L. C. Baker, J. S. Lee, V. Shusterman, B.-R. Choi, T. Kubota, C. F. McTiernan, A. M. Feldman, and G. Salama
Calcium-dependent arrhythmias in transgenic mice with heart failure
Am J Physiol Heart Circ Physiol, February 1, 2003; 284(2): H431 - H441.
[Abstract] [Full Text] [PDF]

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H. Masumiya, R. Wang, J. Zhang, B. Xiao, and S. R. W. Chen
Localization of the 12.6-kDa FK506-binding Protein (FKBP12.6) Binding Site to the NH2-terminal Domain of the Cardiac Ca2+ Release Channel (Ryanodine Receptor)
J. Biol. Chem., January 31, 2003; 278(6): 3786 - 3792.
[Abstract] [Full Text] [PDF]

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 Cardiovasc ResHome page
M. Scoote and A. J Williams
The cardiac ryanodine receptor (calcium release channel): Emerging role in heart failure and arrhythmia pathogenesis
Cardiovasc Res, December 1, 2002; 56(3): 359 - 372.
[Abstract] [Full Text] [PDF]

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 J. Biol. Chem.Home page
Z. Liu, J. Zhang, P. Li, S. R. W. Chen, and T. Wagenknecht
Three-dimensional Reconstruction of the Recombinant Type 2 Ryanodine Receptor and Localization of Its Divergent Region 1
J. Biol. Chem., November 22, 2002; 277(48): 46712 - 46719.
[Abstract] [Full Text] [PDF]

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 J Am Coll CardiolHome page
M. S. Hamid, M. Norman, A. Quraishi, S. Firoozi, R. Thaman, J. R. Gimeno, B. Sachdev, E. Rowland, P. M. Elliott, and W. J. McKenna
Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria
J. Am. Coll. Cardiol., October 16, 2002; 40(8): 1445 - 1450.
[Abstract] [Full Text] [PDF]

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 Hum Mol GenetHome page
C. A. Hubner and T. J. Jentsch
Ion channel diseases
Hum. Mol. Genet., October 1, 2002; 11(20): 2435 - 2445.
[Abstract] [Full Text] [PDF]

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 Physiol. Rev.Home page
D. Fatkin and R. M. Graham
Molecular Mechanisms of Inherited Cardiomyopathies
Physiol Rev, October 1, 2002; 82(4): 945 - 980.
[Abstract] [Full Text] [PDF]

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 Circ. Res.Home page
P.D. Allen
Leaky "Feet" and Sudden Death
Circ. Res., August 9, 2002; 91(3): 181 - 182.
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D. Jiang, B. Xiao, L. Zhang, and S.R. W. Chen
Enhanced Basal Activity of a Cardiac Ca2+ Release Channel (Ryanodine Receptor) Mutant Associated With Ventricular Tachycardia and Sudden Death
Circ. Res., August 9, 2002; 91(3): 218 - 225.
[Abstract] [Full Text] [PDF]

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M. S. Kapiloff
Contributions of Protein Kinase A Anchoring Proteins to Compartmentation of cAMP Signaling in the Heart
Mol. Pharmacol., August 1, 2002; 62(2): 193 - 199.
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 J Am Coll CardiolHome page
B. Bauce, A. Rampazzo, C. Basso, A. Bagattin, L. Daliento, N. Tiso, P. Turrini, G. Thiene, G. A. Danieli, and A. Nava
Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: Early diagnosis of asymptomatic carriers
J. Am. Coll. Cardiol., July 17, 2002; 40(2): 341 - 349.
[Abstract] [Full Text] [PDF]

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 CirculationHome page
A. R. Marks
Clinical Implications of Cardiac Ryanodine Receptor/Calcium Release Channel Mutations Linked to Sudden Cardiac Death
Circulation, July 2, 2002; 106(1): 8 - 10.
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 CirculationHome page
S. G. Priori, C. Napolitano, M. Memmi, B. Colombi, F. Drago, M. Gasparini, L. DeSimone, F. Coltorti, R. Bloise, R. Keegan, et al.
Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia
Circulation, July 2, 2002; 106(1): 69 - 74.
[Abstract] [Full Text] [PDF]

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 NeurologyHome page
J. R. Gorospe, S. Naidu, A. B. Johnson, V. Puri, G. V. Raymond, S. D. Jenkins, R. C. Pedersen, D. Lewis, P. Knowles, R. Fernandez, et al.
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients
Neurology, May 28, 2002; 58(10): 1494 - 1500.
[Abstract] [Full Text] [PDF]

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 Eur Heart JHome page
A.A.M. Wilde, C.A. Remme, R. Derksen, E.F.D. Wever, and R.N.W. Hauer
Brugada syndrome
Eur. Heart J., April 2, 2002; 23(8): 675 - 676.
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 J Am Coll CardiolHome page
N. E. Bowles, J. Ni, F. Marcus, and J. A. Towbin
The detection of cardiotropic viruses in the myocardium of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy
J. Am. Coll. Cardiol., March 6, 2002; 39(5): 892 - 895.
[Abstract] [Full Text] [PDF]

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 CirculationHome page
A. R. Marks, S. Reiken, and S. O. Marx
Progression of Heart Failure: Is Protein Kinase A Hyperphosphorylation of the Ryanodine Receptor a Contributing Factor?
Circulation, January 22, 2002; 105(3): 272 - 275.
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 Cold Spring Harb Symp Quant BiolHome page
M. ELDAR, E. PRAS, and H. LAHAT
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
Cold Spring Harb Symp Quant Biol, January 1, 2002; 67(0): 333 - 338.
[Abstract] [PDF]

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 Cold Spring Harb Symp Quant BiolHome page
X.H.T. WEHRENS and A.R. MARKS
Myocardial Disease in Failing Hearts: Defective Excitation-Contraction Coupling
Cold Spring Harb Symp Quant Biol, January 1, 2002; 67(0): 533 - 542.
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 J Am Coll CardiolHome page
C. Gemayel, A. Pelliccia, and P. D. Thompson
Arrhythmogenic right ventricular cardiomyopathy
J. Am. Coll. Cardiol., December 1, 2001; 38(7): 1773 - 1781.
[Abstract] [Full Text] [PDF]

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 J Am Coll CardiolHome page
N. Protonotarios, A. Tsatsopoulou, A. Anastasakis, E. Sevdalis, G. McKoy, K. Stratos, K. Gatzoulis, K. Tentolouris, C. Spiliopoulou, D. Panagiotakos, et al.
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin
J. Am. Coll. Cardiol., November 1, 2001; 38(5): 1477 - 1484.
[Abstract] [Full Text] [PDF]

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 Cardiovasc ResHome page
S. G Priori, C. Napolitano, and M. Grillo
Concealed arrhythmogenic syndromes: the hidden substrate of idiopathic ventricular fibrillation?
Cardiovasc Res, May 1, 2001; 50(2): 218 - 223.
[Abstract] [Full Text] [PDF]

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M. S. Kapiloff, N. Jackson, and N. Airhart
mAKAP and the ryanodine receptor are part of a multi-component signaling complex on the cardiomyocyte nuclear envelope
J. Cell Sci., January 9, 2001; 114(17): 3167 - 3176.
[Abstract] [Full Text] [PDF]

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G. G. Du, X. Guo, V. K. Khanna, and D. H. MacLennan
Functional Characterization of Mutants in the Predicted Pore Region of the Rabbit Cardiac Muscle Ca2+ Release Channel (Ryanodine Receptor Isoform 2)
J. Biol. Chem., August 17, 2001; 276(34): 31760 - 31771.
[Abstract] [Full Text] [PDF]


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