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

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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, OMIM600996) is an autosomal dominant cardiomyopathy, characterizedby partial degeneration of the myocardium of the right ventricle,electrical instability and sudden death. The disease locus wasmapped to chromosome 1q42–q43. We report here on the physicalmapping of the critical ARVD2 region, exclusion of two candidategenes (actinin 2 and nidogen), elucidation of the genomic structureof the cardiac ryanodine receptor gene (RYR2) and identificationof RYR2 mutations in four independent families. In myocardialcells, the RyR2 protein, activated by Ca²⁺, induces the releaseof calcium from the sarcoplasmic reticulum into the cytosol.RyR2 is the cardiac counterpart of RyR1, the skeletal muscleryanodine receptor, involved in malignant hyperthermia (MH)susceptibility and in central core disease (CCD). The RyR2 mutationsdetected in the present study occurred in two highly conservedregions, strictly corresponding to those where mutations causingMH or CCD are clustered in the RYR1 gene. The detection of RyR2mutations causing ARVD2, reported in this paper, opens the wayto 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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				H. E. D. J. ter Keurs and P. A. Boyden Calcium and Arrhythmogenesis Physiol Rev, April 1, 2007; 87(2): 457 - 506. [Abstract] [Full Text] [PDF]

				D. Dalal, C. James, R. Devanagondi, C. Tichnell, A. Tucker, K. Prakasa, P. J. Spevak, D. A. Bluemke, T. Abraham, S. D. Russell, et al. Penetrance of Mutations in Plakophilin-2 Among Families With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy J. Am. Coll. Cardiol., October 3, 2006; 48(7): 1416 - 1424. [Abstract] [Full Text] [PDF]

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				C. Basso, E. Czarnowska, M. D. Barbera, B. Bauce, G. Beffagna, E. K. Wlodarska, K. Pilichou, A. Ramondo, A. Lorenzon, O. Wozniek, et al. Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies Eur. Heart J., August 1, 2006; 27(15): 1847 - 1854. [Abstract] [Full Text] [PDF]

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