Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy

Circulation

Volumn 113, Issue 9, 2006, Pages 1171-1179

  Pilichou, Kalliopi ^a   Nava, Andrea ^a,c   Basso, Cristina ^a   Beffagna, Giorgia ^a   Bauce, Barbara ^a   Lorenzon, Alessandra ^a   Frigo, Gianfranco ^a   Vettori, Andrea ^a   Valente, Marialuisa ^a   Towbin, Jeffrey ^b   Thiene, Gaetano ^a   Danieli, Gian Antonio ^a   Rampazzo, Alessandra ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF PADOVA   (Italy)

Author keywords

Arrhythmogenic right ventricular dysplasia; Cell adhesion molecules; Genetics; Pathology; Sudden death

Indexed keywords

AMINO ACID; CADHERIN; CELL ADHESION MOLECULE; CREATINE KINASE MB; DESMOGLEIN 2; DESMOPLAKIN; DNA; MESSENGER RNA; PLAKOGLOBIN; PLAKOPHILIN 2; TRANSFORMING GROWTH FACTOR BETA3; TROPONIN I; UNCLASSIFIED DRUG; DSG2 PROTEIN, HUMAN; PKP2 PROTEIN, HUMAN; PLAKOPHILIN; TGFB2 PROTEIN, HUMAN; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA2;

ADOLESCENT; ADULT; AGAR GEL ELECTROPHORESIS; ANGIOGRAPHY; ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA POLYMORPHISM; ELECTROCARDIOGRAPHY; ELECTRON MICROSCOPY; EXERCISE ELECTROCARDIOGRAPHY; FEMALE; GENE; GENE MUTATION; HEART MUSCLE BIOPSY; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MICROSCOPY; MORPHOMETRICS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIGNAL AVERAGED ELECTROCARDIOGRAPHY; SUDDEN DEATH; TWO DIMENSIONAL ECHOCARDIOGRAPHY; BIOPSY; DESMOSOME; GENETICS; HEART MUSCLE; MIDDLE AGED; MUTATION; PATHOLOGY;

ADOLESCENT; ADULT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; BIOPSY; CHILD; DESMOGLEIN 2; DESMOSOMES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOCARDIUM; PLAKOPHILINS; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA2;

EID: 33645527574     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.105.583674     Document Type: Article

References (33)

1. Nava A, Rossi L, Thiene G. Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia. Amsterdam, Netherlands: Elsevier Science BV; 1997.
2. Marcus FI, Fontaine GH, Guiraudon G, Frank R, Laurenceau JL, Malergue C, Grosgogeat Y. Right ventricular dysplasia: a report of 24 adult cases. Circulation. 1982;65:384-398.
3. Thiene G, Nava A, Corrado D, Rossi L, Pennelli N. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med. 1988;318:129-133.
4. Basso C, Thiene G, Corrado D, Angelini A, Nava A, Valente M. Arrhythmogenic right ventricular cardiomyopathy: dysplasia, dystrophy or myocarditis? Circulation. 1996;94:983-991.
5. Corrado D, Basso C, Rizzoli G, Schiavon M, Thiene G. Does sports activity enhance the risk of sudden death in adolescents and young adults? J Am Coll Cardiol. 2003;42:1959-1963.
6. Nava A, Thiene G, Canciani B, Scognamiglio R, Daliento L, Buja G, Martini B, Stritoni P, Fasoli G. Familial occurrence of right ventricular dysplasia: a study involving nine families. J Am Coll Cardiol. 1988;12:1222-1228.
7. Nava A, Bauce B, Basso C, Muriago M, Rampazzo A, Villanova C, Daliento L, Buja G, Corrado D, Danieli GA, Thiene G. Clinical profile and long term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2000;36:2226-2233.
8. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000;355:2119-2124.
9. Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet. 2001;10:189-194.
10. Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2002;71:1200-1206.
11. Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 2004;36:1162-1164.
12. Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C, Bauce B, Carraro G, Thiene G, Towbin JA, Danieli GA, Rampazzo A. Regulatory mutations in transforming growth factor-beta 3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res. 2005;65:366-373.
13. Bauce B, Basso C, Rampazzo A, Beffagna G, Daliento L, Frigo G, Malacrida S, Settimo L, Danieli G, Thiene G, Nava A. Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J. 2005;26:1666-1675.
14. Norman M, Simpson M, Mogensen J, Shaw A, Hughes S, Syrris P, Sen-Chowdhry S, Rowland E, Crosby A, McKenna WJ. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation. 2005;112:636-642.
15. Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000;9:2761-2766.
16. Kaplan SR, Gard JJ, Carvajal-Huerta L, Ruiz-Cabezas JC, Thiene G, Saffitz JE. Structural and molecular pathology of the heart in Carvajal syndrome. Cardiovasc Pathol. 2004;13:26-32.
17. Thiene G, Corrado D, Basso C. Cardiomyopathies: time for molecular classification? Eur Heart J. 2004;25:1772-1775.
18. Troyanovsky SM, Leube RE. Molecular dissection of desmosomal assembly and intermediate filament anchorage. Subcell Biochem. 1998;31:263-289.
19. Ishii K, Green KJ. Cadherin function: breaking the barrier. Curr Biol. 2001;11:R569-R572.
20. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, Camerini F. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy: Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J. 1994;71:215-218.
21. Schäfer S, Koch PJ, Franke WW. Identification of the ubiquitous human desmoglein, DSG2, and the expression catalogue of the desmoglein subfamily of the desmosomal cadherins. Exp Cell Res. 1994;211:391-399.
22. Angelini A, Basso C, Nava A, Thiene G. Endomyocardial biopsy in arrhythmogenic right ventricular cardiomyopathy. Am Heart J. 1996;132:203-206.
23. Basso C, Della Barbera M, Valente M, Wlodarska EK, Bauce B, Daliento L, Rampazzo A, Nava A, Thiene G, Czarnowska E. Arrhythmogenic right ventricular cardiomyopathy: ultrastructural evidence of myocyte intercalated disc remodeling. Circulation. 2005;112:II-407-II-408.
24. Nagafuchi A, Takeichi M. Cell binding function of E-cadherin is regulated by the cytoplasmic domain. EMBO J. 1988;7:3679-3684.
25. Ozawa M, Kemler R. The membrane-proximal region of the E-cadherin cytoplasmic domain prevents dimerization and negatively regulates adhesion activity. J Cell Biol. 1998;142:1605-1613.
26. Pertz O, Bozic D, Koch AW, Fauser C, Brancaccio A, Engel J. A new crystal structure, Ca2+ dependence and mutational analysis reveal molecular details of E-cadherin homoassociation. EMBO J. 1999;18:1738-1747.
27. Eshkind L, Tian Q, Schmidt A, Franke WW, Windoffer R, Leube RE. Loss of desmoglein 2 suggests essential functions for early embryonic development and proliferation of embryonal stem cells. Eur J Cell Biol. 2002;81:592-598.
28. Roberts GA, Burdett ID, Pidsley SC, King IA, Magee AI, Buxton RS. Antisense expression of a desmocollin gene in MDCK cells alters desmosome plaque assembly but does not affect desmoglein expression. Eur J Cell Biol. 1998;76:192-203.
29. Allen E, Yu QC, Fuchs E. Mice expressing a mutant desmosomal cadherin exhibit abnormalities in desmosomes, proliferation, and epidermal differentiation. J Cell Biol. 1996;133:1367-1382.
30. Serpente N, Marcozzi C, Roberts GA, Bao Q, Angst BD, Hirst EM, Burdett ID, Buxton RS, Magee AI. Extracellularly truncated desmoglein 1 compromises desmosomes in MDCK cells. Mol Membr Biol. 2000;17:175-183.
31. Koch PJ, Mahoney MG, Ishikawa H, Pulkkinen L, Uitto J, Shultz L, Murphy GF, Whitaker-Menezes D, Stanley JR. Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris. J Cell Biol. 1997;137:1091-1102.
32. Protonotarios N, Tsatsopoulou A. Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol. 2004;13:185-194.
33. Yoshida M, Romberger DJ, Illig MG, Takizawa H, Sacco O, Spurzem JR, Sisson JH, Rennard SI, Beckmann JD. Transforming growth factor-beta stimulates the expression of desmosomal proteins in bronchial epithelial cells. Am J Respir Cell Mol Biol. 1992;6:439-445.