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DC Field | Value | Language |
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dc.contributor.author | Pilichou, Kalliopi | - |
dc.contributor.author | Remme, Carol Ann | - |
dc.contributor.author | Basso, Cristina | - |
dc.contributor.author | Campian, Maria E. | - |
dc.contributor.author | Rizzo, Stefania | - |
dc.contributor.author | Barnett, Phil | - |
dc.contributor.author | Scicluna, Brendon P. | - |
dc.contributor.author | Bauce, Barbara | - |
dc.contributor.author | Hoff, Maurice J. B. van den | - |
dc.contributor.author | Bakker, Jacques M. T. de | - |
dc.contributor.author | Tan, Hanno L. | - |
dc.contributor.author | Valente, Marialuisa | - |
dc.contributor.author | Nava, Andrea | - |
dc.contributor.author | Wilde, Arthur A. M. | - |
dc.contributor.author | Moorman, Antoon F. M. | - |
dc.contributor.author | Thiene, Gaetano | - |
dc.contributor.author | Bezzina, Connie R. | - |
dc.date.accessioned | 2022-06-30T10:30:14Z | - |
dc.date.available | 2022-06-30T10:30:14Z | - |
dc.date.issued | 2009 | - |
dc.identifier.citation | Pilichou, K., Remme, C. A., Basso, C., Campian, M. E., Rizzo, S., Barnett, P., ... & Bezzina, C. R. (2009). Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy. Journal of Experimental Medicine, 206(8), 1787-1802. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar/handle/123456789/98580 | - |
dc.description.abstract | Mutations in the cardiac desmosomal protein desmoglein-2 (DSG2) are associated with arrhythmogenic right ventricular cardiomyopathy (ARVC). We studied the explanted heart of a proband carrying the DSG2-N266S mutation as well as transgenic mice (Tg-NS) with cardiac overexpression of the mouse equivalent of this mutation, N271S-dsg2, with the aim of investigating the pathophysiological mechanisms involved. Transgenic mice recapitulated the clinical features of ARVC, including sudden death at young age, spontaneous ventricular arrhythmias, cardiac dysfunction, and biventricular dilatation and aneurysms. Investigation of transgenic lines with different levels of transgene expression attested to a dose-dependent dominant-negative effect of the mutation. We demonstrate for the first time that myocyte necrosis is the key initiator of myocardial injury, triggering progressive myocardial damage, including an inflammatory response and massive calcification within the myocardium, followed by injury repair with fibrous tissue replacement, and myocardial atrophy. These observations were supported by findings in the explanted heart from the patient. Insight into mechanisms initiating myocardial damage in ARVC is a prerequisite to the future development of new therapies aimed at delaying onset or progression of the disease. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | Rockefeller University Press | en_GB |
dc.rights | info:eu-repo/semantics/restrictedAccess | en_GB |
dc.subject | Amino acids -- Biotechnology | en_GB |
dc.subject | Arrhythmia -- Diagnosis | en_GB |
dc.subject | Myocardium -- Diseases | en_GB |
dc.subject | Electrocardiography -- Case studies | en_GB |
dc.subject | Recombinant proteins | en_GB |
dc.title | Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy | en_GB |
dc.type | article | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder | en_GB |
dc.description.reviewed | peer-reviewed | en_GB |
dc.identifier.doi | 10.1084/jem.20090641 | - |
dc.publication.title | Journal of Experimental Medicine | en_GB |
Appears in Collections: | Scholarly Works - FacHScABS |
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Myocyte_necrosis_underlies_progressive_myocardial_dystrophy_in_mouse_dsg2_related_arrhythmogenic_right_ventricular_cardiomyopathy.pdf Restricted Access | 7.18 MB | Adobe PDF | View/Open Request a copy |
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