Novel missense mutations in exon 15 of desmoglein-2: Role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

Heart Rhythm

Volumn 7, Issue 10, 2010, Pages 1446-1453

  Gehmlich, Katja ^a   Asimaki, Angeliki ^b   Cahill, Thomas J ^a   Ehler, Elisabeth ^c   Syrris, Petros ^a   Zachara, Elisabetta ^d   Re, Federica ^d   Avella, Andrea ^e   Monserrat, Lorenzo ^f   Saffitz, Jeffrey E ^b   McKenna, William J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b HARVARD MEDICAL SCHOOL   (United States)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d SAN CAMILLO FORLANINI HOSPITAL   (Italy)

^e San Camillo Fortanini Hospital   (Italy)

^f Cardiomyopathies Unit   (Spain)

Author keywords

Diabetes Mellitus; Myocardial infarction; Prognosis; Sudden death

Indexed keywords

CADHERIN; DESMOGLEIN 2; PLAKOPHILIN; PLAKOPHILIN 2; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE IDENTIFICATION; HEART MUSCLE BIOPSY; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; BIOPSY, NEEDLE; CADHERINS; DESMOGLEIN 2; ENDOCARDIUM; FEMALE; GAMMA CATENIN; GENOTYPE; HEART VENTRICLES; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; MYOCARDIUM; PEDIGREE; PLAKOPHILINS; PROTEIN BINDING; YOUNG ADULT;

EID: 77957271158     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2010.08.007     Document Type: Article

References (28)

1. G. Thiene, D. Corrado, and C. Basso Arrhythmogenic right ventricular cardiomyopathy/dysplasia Orphanet J Rare Dis 2 2007 45
2. S. Sen-Chowdhry, P. Syrris, and W.J. McKenna Genetics of right ventricular cardiomyopathy J Cardiovasc Electrophysiol 16 2005 927 935
3. M.M. Awad, H. Calkins, and D.P. Judge Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy Nat Clin Pract Cardiovasc Med 5 2008 258 267
4. A. Asimaki, H. Tandri, and H. Huang A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy N Engl J Med 360 2009 1075 1084
5. R. Lombardi, and A.J. Marian Arrhythmogenic right ventricular cardiomyopathy is a disease of cardiac stem cells Curr Opin Cardiol 25 2010 222 228
6. C. Basso, E. Czarnowska, and B.M. Della Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies Eur Heart J 27 2006 1847 1854
7. S.R. Kaplan, J.J. Gard, and N. Protonotarios Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease) Heart Rhythm 1 2004 3 11
8. S.E. Syed, B. Trinnaman, S. Martin, S. Major, J. Hutchinson, and A.I. Magee Molecular interactions between desmosomal cadherins Biochem J 362 2002 317 327
9. K.J. Green, and C.L. Simpson Desmosomes: new perspectives on a classic J Invest Dermatol 127 2007 2499 2515
10. M.G. Posch, M.J. Posch, and C. Geier A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy Mol Genet Metab 95 2008 74 80
11. M.M. Awad, D. Dalal, and E. Cho DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy Am J Hum Genet 79 2006 136 142
12. S. Sen-Chowdhry, P. Syrris, and W.J. McKenna Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy J Am Coll Cardiol 50 2007 1813 1821
13. F.I. Marcus, W.J. McKenna, and D. Sherrill Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed Modification of the Task Force Criteria Eur Heart J 31 2010 806 814
14. J.E. Saffitz, R.B. Schuessler, and K.A. Yamada Mechanisms of remodeling of gap junction distributions and the development of anatomic substrates of arrhythmias Cardiovasc Res 42 1999 309 317
15. A. Avella, G. d'Amati, and A. Pappalardo Diagnostic value of endomyocardial biopsy guided by electroanatomic voltage mapping in arrhythmogenic right ventricular cardiomyopathy/dysplasia J Cardiovasc Electrophysiol 19 2008 1127 1134
16. S.M. Troyanovsky, R.B. Troyanovsky, L.G. Eshkind, V.A. Krutovskikh, R.E. Leube, and W.W. Franke Identification of the plakoglobin-binding domain in desmoglein and its role in plaque assembly and intermediate filament anchorage J Cell Biol 127 1994 151 160
17. F. Ahmad The molecular genetics of arrhythmogenic right ventricular dysplasia-cardiomyopathy Clin Invest Med 26 2003 167 178
18. P. Syrris, D. Ward, and A. Asimaki Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease Eur Heart J 28 2007 581 588
19. K. Pilichou, A. Nava, and C. Basso Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy Circulation 113 2006 1171 1179
20. K. Pilichou, C.A. Remme, and C. Basso Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy J Exp Med 206 2009 1787 1802
21. P. Kirchhof, L. Fabritz, and M. Zwiener Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice Circulation 114 2006 1799 1806
22. E.M. Oxford, H. Musa, K. Maass, W. Coombs, S.M. Taffet, and M. Delmar Connexin43 remodeling caused by inhibition of plakophilin-2 expression in cardiac cells Circ Res 101 2007 703 711
23. P.Y. Sato, H. Musa, and W. Coombs Loss of plakophilin-2 expression leads to decreased sodium current and slower conduction velocity in cultured cardiac myocytes Circ Res 105 2009 523 526
24. K. Kami, M. Chidgey, T. Dafforn, and M. Overduin The desmoglein-specific cytoplasmic region is intrinsically disordered in solution and interacts with multiple desmosomal protein partners J Mol Biol 386 2009 531 543
25. J. Ren, L. Wen, X. Gao, C. Jin, Y. Xue, and X. Yao CSS-Palm 2.0: an updated software for palmitoylation sites prediction Protein Eng Des Sel 21 2008 639 644
26. M.J. Bijlmakers, and M. Marsh The on-off story of protein palmitoylation Trends Cell Biol 13 2003 32 42
27. M.T. Bedford, and S.G. Clarke Protein arginine methylation in mammals: who, what, and why Mol Cell 33 2009 1 13
28. R. Lombardi, J. Dong, and G. Rodriguez Genetic fate mapping identifies second heart field progenitor cells as a source of adipocytes in arrhythmogenic right ventricular cardiomyopathy Circ Res 104 2009 1076 1084