De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

Human Molecular Genetics

Volumn 19, Issue 23, 2010, Pages 4595-4607

  Klauke, Baerbel ^a   Kossmann, Sabine ^a   Gaertner, Anna ^a   Brand, Kristina ^a   Stork, Ines ^a   Brodehl, Andreas ^a   Dieding, Mareike ^b   Walhorn, Volker ^b   Anselmetti, Dario ^b   Gerdes, Désirée ^a   Bohms, Birte ^a   Schulz, Uwe ^a   Zu Knyphausen, Edzard ^a   Vorgerd, Matthias ^c   Gummert, Jan ^a   Milting, Hendrik ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b BIELEFELD UNIVERSITY   (Germany)

^c RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DESMIN; MUTANT PROTEIN;

ADULT; AGGRESOME; ARTICLE; ATOMIC FORCE MICROSCOPY; CLINICAL ARTICLE; COHORT ANALYSIS; ESCHERICHIA COLI; FEMALE; GENE MUTATION; GENETIC SCREENING; GENETIC TRANSFECTION; GENOTYPE; HEART FAILURE; HEART MUSCLE; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; MALE; MOLECULAR GENETICS; NONHUMAN; PRIORITY JOURNAL; SKELETAL MUSCLE; VISCOMETRY;

ADOLESCENT; ADULT; AGED; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; BASE SEQUENCE; CELL ADHESION; DEATH, SUDDEN, CARDIAC; DESMIN; DESMOSOMES; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HUMANS; INTERMEDIATE FILAMENTS; MALE; MICROSCOPY, ATOMIC FORCE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION;

ESCHERICHIA COLI;

EID: 78149256040     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq387     Document Type: Article

References (54)

1. Maron, B.J. and Pelliccia, A. (2006) The heart of trained athletes: cardiac remodeling and the risks of sports, including sudden death. Circulation, 114, 1633-1644.
2. Norman, M.W. and McKenna, W.J. (1999) Arrhythmogenic right ventricular cardiomyopathy: perspectives on disease. Z. Kardiol., 88, 550-554.
3. Nava, A., Martini, B., Thiene, G., Buja, G.F., Canciani, B., Scognamiglio, R., Miraglia, G., Corrado, D., Boffa, G.M., Daliento, L et al. (1988) Arrhythmogenic right ventricular dysplasia. Study of a selected population. G. Ital. Cardiol., 18, 2-9.
4. Herren, T., Gerber, P.A. and Duru, F. (2009) Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare 'disease of the desmosome' with multiple clinical presentations. Clin. Res. Cardiol., 98, 141-158.
5. Thiene, G., Corrado, D. and Basso, C. (2007) Arrhythmogenic right ventricular cardiomyopathy/dysplasia. Orphanet. J. Rare Dis., 2, 45.
6. Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C.T., McDermott, D.A., Lerman, B.B., Markowitz, S.M., Ellinor, P.T., MacRae, C.A. et al. (2004) Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat. Genet., 36, 1162-1164.
7. Awad, M.M., Calkins, H. and Judge, D.P. (2008) Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat. Clin. Pract. Cardiovasc. Med., 5, 258-267.
8. Xu, T., Yang, Z., Vatta, M., Rampazzo, A., Beffagna, G., Pilichou, K., Scherer, S.E., Saffitz, J., Kravitz, J., Zareba, W. et al. (2010) Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J. Am. Coll. Cardiol., 55, 587-597.
9. Bauce, B., Nava, A., Beffagna, G., Basso, C., Lorenzon, A., Smaniotto, G., De Bortoli, M., Rigato, I., Mazzotti, E., Steriotis, A. et al. (2010) Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart Rhythm, 7, 22-29.
10. De Bortoli, M., Beffagna, G., Bauce, B., Lorenzon, A., Smaniotto, G., Rigato, I., Calore, M., Li Mura, I.E., Basso, C., Thiene, G. et al. (2010) The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy. Eur. J. Hum. Genet., 18, 776-782.
11. McKoy, G., Protonotarios, N., Crosby, A., Tsatsopoulou, A., Anastasakis, A., Coonar, A., Norman, M., Baboonian, C., Jeffery, S. and McKenna, W.J. (2000) Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet, 355, 2119-2124.
12. Simpson, M.A., Mansour, S., Ahnood, D., Kalidas, K., Patton, M.A., McKenna, W.J., Behr, E.R. and Crosby, A.H. (2009) Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology, 113, 28-34.
13. Norgett, E.E., Hatsell, S.J., Carvajal-Huerta, L., Cabezas, J.C., Common, J., Purkis, P.E., Whittock, N., Leigh, I.M., Stevens, H.P. and Kelsell, D.P. (2000) Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum. Mol. Genet., 9, 2761-2766.
14. Alcalai, R., Metzger, S., Rosenheck, S., Meiner, V. and Chajek-Shaul, T. (2003) A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J. Am. Coll. Cardiol., 42, 319-327.
15. Awad, M.M., Dalal, D., Tichnell, C., James, C., Tucker, A., Abraham, T., Spevak, P.J., Calkins, H. and Judge, D.P. (2006) Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Hum. Mutat., 27, 1157.
16. Omary, M.B., Coulombe, P.A. and McLean, W.H. (2004) Intermediate filament proteins and their associated diseases. N. Engl. J. Med., 351, 2087-2100.
17. Taylor, M.R., Slavov, D., Ku, L., Di Lenarda, A., Sinagra, G., Carniel, E., Haubold, K., Boucek, M.M., Ferguson, D., Graw, S.L. et al. (2007) Prevalence of desmin mutations in dilated cardiomyopathy. Circulation, 115, 1244-1251.
18. Ariza, A., Coll, J., Fernandez-Figueras, M.T., Lopez, M.D., Mate, J.L., Garcia, O., Fernandez-Vasalo, A. and Navas-Palacios, J.J. (1995) Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle. Hum. Pathol., 26, 1032-1037.
19. Park, K.Y., Dalakas, M.C., Goebel, H.H., Ferrans, V.J., Semino-Mora, C., Litvak, S., Takeda, K. and Goldfarb, L.G. (2000) Desmin splice variants causing cardiac and skeletal myopathy. J. Med. Genet., 37, 851-857.
20. van Tintelen, J.P., Van Gelder, I.C., Asimaki, A., Suurmeijer, A.J., Wiesfeld, A.C., Jongbloed, J.D., van den Wijngaard, A., Kuks, J.B., van Spaendonck-Zwarts, K.Y., Notermans, N. et al. (2009) Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. Heart Rhythm, 6, 1574-1583.
21. van der Zwaag, P.A., Jongbloed, J.D., van den Berg, M.P., van der Smagt, J.J., Jongbloed, R., Bikker, H., Hofstra, R.M. and van Tintelen, J.P. (2009) A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy. Hum. Mutat., 30, 1278-1283.
22. Milting, H. and Klauke, B. (2008) Molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat. Clin. Pract. Cardiovasc. Med., 5, E1 (author reply E2).
23. Posch, M.G., Posch, M.J., Perrot, A., Dietz, R. and Ozcelik, C. (2008) Variations in DSG2: V56M, V158G and V920G are not pathogenic for arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat. Clin. Pract. Cardiovasc. Med., 5, E1.
24. Posch, M.G., Posch, M.J., Geier, C., Erdmann, B., Mueller, W., Richter, A., Ruppert, V., Pankuweit, S., Maisch, B., Perrot, A. et al. (2008) A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. Mol. Genet. Metab., 95, 74-80.
25. Syrris, P., Ward, D., Asimaki, A., Evans, A., Sen-Chowdhry, S., Hughes, S.E. and McKenna, W.J. (2007) Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. Eur. Heart J., 28, 581-588.
26. Bhuiyan, Z.A., Jongbloed, J.D., van der Smagt, J., Lombardi, P.M., Wiesfeld, A.C., Nelen, M., Schouten, M., Jongbloed, R., Cox, M.G., van Wolferen, M. et al. (2009) Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. Circ. Cardiovasc. Genet., 2, 418-427.
27. Syrris, P., Ward, D., Evans, A., Asimaki, A., Gandjbakhch, E., Sen-Chowdhry, S. and McKenna, W.J. (2006) Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am. J. Hum. Genet., 79, 978-984.
28. Fressart, V., Duthoit, G., Donal, E., Probst, V., Deharo, J.C., Chevalier, P., Klug, D., Dubourg, O., Delacretaz, E., Cosnay, P. et al. (2010) Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace, 12, 861-868.
29. van Tintelen, J.P., Entius, M.M., Bhuiyan, Z.A., Jongbloed, R., Wiesfeld, A.C., Wilde, A.A., van der Smagt, J., Boven, L.G., Mannens, M.M., van Langen, I.M. et al. (2006) Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation, 113, 1650-1658.
30. Christensen, A.H., Benn, M., Tybjaerg-Hansen, A., Haunso, S. and Svendsen, J.H. (2010) Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients-disease-causing or innocent bystanders? Cardiology, 115, 148-154.
31. Strelkov, S.V., Herrmann, H., Geisler, N., Wedig, T., Zimbelmann, R., Aebi, U. and Burkhard, P. (2002) Conserved segments 1A and 2B of the intermediate filament dimer: their atomic structures and role in filament assembly. EMBO J., 21, 1255-1266.
32. Meier, M., Padilla, G.P., Herrmann, H., Wedig, T., Hergt, M., Patel, T.R., Stetefeld, J., Aebi, U. and Burkhard, P. (2009) Vimentin coil 1A-A molecular switch involved in the initiation of filament elongation. J. Mol. Biol., 390, 245-261.
33. Hedberg, K.K. and Chen, L.B. (1986) Absence of intermediate filaments in a human adrenal cortex carcinoma-derived cell line. Exp. Cell Res., 163, 509-517.
34. Tiso, N., Stephan, D.A., Nava, A., Bagattin, A., Devaney, J.M., Stanchi, F., Larderet, G., Brahmbhatt, B., Brown, K., Bauce, B. et al. (2001) Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum. Mol. Genet., 10, 189-194.
35. Milting, H., Lukas, N., Klauke, B., Korfer, R., Perrot, A., Osterziel, K.J., Vogt, J., Peters, S., Thieleczek, R. and Varsanyi, M. (2006) Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy. Cardiovasc. Res., 71, 496-505.
36. Beffagna, G., Occhi, G., Nava, A., Vitiello, L., Ditadi, A., Basso, C., Bauce, B., Carraro, G., Thiene, G., Towbin, J.A. et al. (2005) Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc. Res., 65, 366-373.
37. Merner, N.D., Hodgkinson, K.A., Haywood, A.F., Connors, S., French, V.M., Drenckhahn, J.D., Kupprion, C., Ramadanova, K., Thierfelder, L., McKenna, W. et al. (2008) Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am. J. Hum. Genet., 82, 809-821.
38. Sen-Chowdhry, S., Morgan, R.D., Chambers, J.C. and McKenna, W.J. (2010) Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment. Annu. Rev. Med., 61, 233-253.
39. den Haan, A.D., Tan, B.Y., Zikusoka, M.N., Llado, L.I., Jain, R., Daly, A., Tichnell, C., James, C., Amat-Alarcon, N., Abraham, T. et al. (2009) Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ. Cardiovasc. Genet., 2, 428-435.
40. Green, K.J., Parry, D.A., Steinert, P.M., Virata, M.L., Wagner, R.M., Angst, B.D. and Nilles, L.A. (1990) Structure of the human desmoplakins. Implications for function in the desmosomal plaque. J. Biol. Chem., 265, 2603-2612.
41. Lapouge, K., Fontao, L., Champliaud, M.F., Jaunin, F., Frias, M.A., Favre, B., Paulin, D., Green, K.J. and Borradori, L. (2006) New insights into the molecular basis of desmoplakin-and desmin-related cardiomyopathies. J. Cell. Sci., 119, 4974-4985.
42. Melberg, A., Oldfors, A., Blomstrom-Lundqvist, C., Stalberg, E., Carlsson, B., Larsson, E., Lidell, C., Eeg-Olofsson, K.E., Wikstrom, G., Henriksson, K.G. et al. (1999) Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann. Neurol., 46, 684-692.
43. Otten, E., Asimaki, A., Maass, A., van Langen, I.M., Wal, A.V., de Jonge, N., van den Berg, M.P., Saffitz, J.E., Wilde, A.A., Jongbloed, J.D. et al. (2010) Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. Heart Rhythm., 7, 1058-1064
44. Dalakas, M.C., Park, K.Y., Semino-Mora, C., Lee, H.S., Sivakumar, K. and Goldfarb, L.G. (2000) Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N. Engl. J. Med., 342, 770-780.
45. Bar, H., Goudeau, B., Walde, S., Casteras-Simon, M., Mucke, N., Shatunov, A., Goldberg, Y.P., Clarke, C., Holton, J.L., Eymard, B. et al. (2007) Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. Hum. Mutat., 28, 374-386.
46. Vernengo, L., Chourbagi, O., Panuncio, A., Lilienbaum, A., Batonnet-Pichon, S., Bruston, F., Rodrigues-Lima, F., Mesa, R., Pizzarossa, C., Demay, L. et al. (2010) Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain. Neuromuscul. Disord., 20, 178-187.
47. Sharma, S., Mucke, N., Katus, H.A., Herrmann, H. and Bar, H. (2009) Disease mutations in the 'head' domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties. J. Mol. Med., 87, 1207-1219.
48. Bar, H., Mucke, N., Kostareva, A., Sjoberg, G., Aebi, U. and Herrmann, H. (2005) Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages. Proc. Natl Acad. Sci. USA, 102, 15099-15104.
49. Ho, S.N., Hunt, H.D., Horton, R.M., Pullen, J.K. and Pease, L.R. (1989) Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene, 77, 51-59.
50. Garboczi, D.N., Utz, U., Ghosh, P., Seth, A., Kim, J., VanTienhoven, E.A., Biddison, W.E. and Wiley, D.C. (1996) Assembly, specific binding, and crystallization of a human TCR-alphabeta with an antigenic Tax peptide from human T lymphotropic virus type 1 and the class I MHC molecule HLA-A2. J. Immunol., 157, 5403-5410.
51. Bradford, M.M. (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal. Biochem., 72, 248-254.
52. Herrmann, H., Haner, M., Brettel, M., Ku, N.O. and Aebi, U. (1999) Characterization of distinct early assembly units of different intermediate filament proteins. J. Mol. Biol., 286, 1403-1420.
53. Bar, H., Mucke, N., Ringler, P., Muller, S.A., Kreplak, L., Katus, H.A., Aebi, U. and Herrmann, H. (2006) Impact of disease mutations on the desmin filament assembly process. J. Mol. Biol., 360, 1031-1042.
54. Lyubchenko, Y., Shlyakhtenko, L., Harrington, R., Oden, P. and Lindsay, S. (1993) Atomic force microscopy of long DNA: imaging in air and under water. Proc. Natl Acad. Sci. USA, 90, 2137-2140.