A novel myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity

Biochemistry Research International

Volumn , Issue , 2012, Pages

  Andersen, Paal Skytt ^a   Hedley, Paula Louise ^a   Page, Stephen P ^c   Syrris, Petros ^c   Moolman Smook, Johanna Catharina ^b   McKenna, William John ^c   Elliott, Perry Michael ^c   Christiansen, Michael ^a  

^a STATENS SERUM INSTITUT   (Denmark)

^b STELLENBOSCH UNIVERSITY   (South Africa)

^c UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84861073985     PISSN: 20902247     EISSN: 20902255     Source Type: Journal    
DOI: 10.1155/2012/685108     Document Type: Article

References (43)

1. Erdmann J., Daehmlow S., Wischke S., Senyuva M., Werner U., Raible J., Tanis N., Dyachenko S., Hummel M., Hetzer R., Regitz-Zagrosek V., Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy Clinical Genetics 2003 64 4 339 349 (Pubitemid 37236134)
2. Marian A. J., Salek L., Lutucuta S., Molecular genetics and pathogenesis of hypertrophic cardiomyopathy Minerva Medica 2001 92 6 435 451 (Pubitemid 34184275)
3. Niimura H., Patton K. K., McKenna W. J., Soults J., Maron B. J., Seidman J. G., Seidman C. E., Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly Circulation 2002 105 4 446 451 (Pubitemid 34141700)
4. Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J. P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M., Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy Circulation 2003 107 17 2227 2232 (Pubitemid 36547217)
5. Andersen P. S., Havndrup O., Hougs L., Srensen K. M., Jensen M., Larsen L. A., Hedley P., Thomsen A. R. B., Moolman-Smook J., Christiansen M., Bundgaard H., Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives Human Mutation 2009 30 3 363 370
6. Andersen P. A., Havndrup O., Bundgaard H., Larsen L. A., Vuust J., Pedersen A. K., Kjeldsen K., Christiansen M., Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency European Journal of Human Genetics 2004 12 8 673 677 (Pubitemid 39172430)
7. Thierfelder L., Watkins H., MacRae C., Lamas R., McKenna W., Vosberg H. P., Seidman J. G., Seidman C. E., α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere Cell 1994 77 5 701 712
8. Marn-Garca J., Goldenthal M. J., Filiano J. J., Cardiomyopathy associated with neurologic disorders and mitochondrial phenotype Journal of Child Neurology 2002 17 10 759 765 (Pubitemid 36163689)
9. Andersen P. S., Havndrup O., Bundgaard H., Moolman-Smook J. C., Larsen L. A., Mogensen J., Brink P. A., Brglum A. D., Corfield V. A., Kjeldsen K., Vuust J., Christiansen M., Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations Journal of Medical Genetics 2001 38 12, article E43
10. Arad M., Penas-Lado M., Monserrat L., Maron B. J., Sherrid M., Ho C. Y., Barr S., Karim A., Olson T. M., Kamisago M., Seidman J. G., Seidman C. E., Gene mutations in apical hypertrophic cardiomyopathy Circulation 2005 112 18 2805 2811 (Pubitemid 41641675)
11. Bonne G., Carrier L., Richard P., Hainque B., Schwartz K., Familial hypertrophic cardiomyopathy: from mutations to functional defects Circulation Research 1998 83 6 580 593 (Pubitemid 28427741)
12. Epstein N. D., The molecular biology and pathophysiology of hypertrophic cardiomyopathy due to mutations in the beta myosin heavy chains and the essential and regulatory light chains Advances in Experimental Medicine and Biology 1998 453 105 115 (Pubitemid 29023820)
13. Lee W. H., Hwang T. H., Kimura A., Park S. W., Satoh M., Nishi H., Harada H., Toyama J., Park J. E., Different expressivity of a ventricular essential myosin light chain gene Ala57Gly mutation in familial hypertrophic cardiomyopathy American Heart Journal 2001 141 2 184 189 (Pubitemid 32128721)
14. Olson T. M., Karst M. L., Whitby F. G., Driscoll D. J., Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology Circulation 2002 105 20 2337 2340 (Pubitemid 34556382)
15. Poetter K., Jiang H., Hassanzadeh S., Master S. R., Chang A., Dalakas M. C., Rayment I., Sellers J. R., Fananapazir L., Epstein N. D., Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle Nature Genetics 1996 13 1 63 69 (Pubitemid 26139295)
16. Kaski J. P., Syrris P., Esteban M. T. T., Jenkins S., Pantazis A., Deanfield J. E., McKenna W. J., Elliott P. M., Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy Circulation 2009 2 5 436 441
17. Choi J. O., Yu C. W., Nah J. C., Park J. R., Lee B. S., Choi Y. J., Cho B. R., Lee S. C., Park S. W., Kimura A., Park J. E., Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations Clinical Cardiology 2010 33 7 430 438
18. Fokstuen S., Munoz A., Melacini P., Iliceto S., Perrot A., zcelik C., Jeanrenaud X., Rieubland C., Farr M., Faber L., Sigwart U., Mach F., Lerch R., Antonarakis S. E., Blouin J.-L., Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice Journal of Medical Genetics 2011 48 8 572 576
19. Garcia-Pavia P., Vzquez M. E., Segovia J., Salas C., Avellana P., Gmez-Bueno M., Vilches C., Gallardo M. E., Garesse R., Molano J., Bornstein B., Alonso-Pulpon L., Genetic basis of end-stage hypertrophic cardiomyopathy European Journal of Heart Failure 2011 13 11 1193 1201
20. Dominguez R., Freyzon Y., Trybus K. M., Cohen C., Crystal structure of a vertebrate smooth muscle myosin motor domain and its complex with the essential light chain: visualization of the pre-power stroke state Cell 1998 94 5 559 571 (Pubitemid 28427575)
21. Rayment I., Rypniewski W. R., Schmidt-Base K., Smith R., Tomchick D. R., Benning M. M., Winkelmann D. A., Wesenberg G., Holden H. M., Three-dimensional structure of myosin subfragment-1: a molecular motor Science 1993 261 5117 50 58 (Pubitemid 23265379)
22. Wendel B., Reinhard R., Wachtendorf U., Zacharzowsky U. B., Osterziel K. J., Schulte H. D., Haase H., Hoehe M. R., Morano I., The human -myosin heavy chain gene: sequence diversity and functional characteristics of the protein Journal of Cellular Biochemistry 2000 79 4 566 575
23. Trayer H. R., Trayer I. P., Differential binding of rabbit fast muscle myosin light chain isoenzymes to regulated actin FEBS Letters 1985 180 2 170 174 (Pubitemid 15172631)
24. Hernandez O. M., Jones M., Guzman G., Szczesna-Cordary D., Myosin essential light chain in health and disease American Journal of Physiology 2007 292 4 H1643 H1654
25. Grabarek Z., Structural basis for diversity of the EF-hand calcium-binding proteins Journal of Molecular Biology 2006 359 3 509 525 (Pubitemid 43767271)
26. Morano I., Tuning the human heart molecular motors by myosin light chairs Journal of Molecular Medicine 1999 77 7 544 555 (Pubitemid 29426312)
27. Morano I., Tuning smooth muscle contraction by molecular motors Journal of Molecular Medicine 2003 81 8 481 487 (Pubitemid 37070200)
28. Meder B., Laufer C., Hassel D., Just S., Marquart S., Vogel B., Hess A., Fishman M. C., Katus H. A., Rottbauer W., A single serine in the carboxyl terminus of cardiac essential myosin light chain-1 controls cardiomyocyte contractility in vivo Circulation Research 2009 104 5 650 659
29. Richardson P., McKenna R. W., Bristow M., Maisch B., Mautner B., O'Connell J., Olsen E., Thiene G., Goodwin J., Gyarfas I., Martin I., Nordet P., Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies Circulation 1996 93 5 841 842 (Pubitemid 26074816)
30. Ten Cate F. J., Hugenholtz P. G., Van Dorp W. G., Roelandt J., Prevalence of diagnostic abnormalities in patients with genetically transmitted asymmetric septal hypertrophy American Journal of Cardiology 1979 43 4 731 737 (Pubitemid 9150825)
31. Adzhubei I. A., Schmidt S., Peshkin L., Ramensky V. E., Gerasimova A., Bork P., Kondrashov A. S., Sunyaev S. R., A method and server for predicting damaging missense mutations Nature Methods 2010 7 4 248 249
32. Houdusse A., Cohen C., Structure of the regulatory domain of scallop myosin at 2 resolution: implications for regulation Structure 1996 4 1 21 32 (Pubitemid 126658521)
33. Hall T. A., BioEdit: a user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucleic Acids Symposium Series 1999 41 95 98
34. Terrak M., Wu G., Stafford W. F., Lu R. C., Dominguez R., Two distinct myosin light chain structures are induced by specific variations within the bound IQ motifsfunctional implications The EMBO Journal 2003 22 3 362 371 (Pubitemid 36193582)
35. Rayment I., Holden H. M., Sellers J. R., Fananapazir L., Epstein N. D., Structural interpretation of the mutations in the -cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy Proceedings of the National Academy of Sciences of the United States of America 1995 92 9 3864 3868
36. Moric E., Mazurek U., Poloska J., Domal-Kwiatkowska D., Smolik S., Kozakiewicz K., Tendera M., Wilczok T., Three novel mutations in exon 21 encoding -cardiac myosin heavy chain Journal of Applied Genetics 2003 44 1 103 109 (Pubitemid 37123409)
37. Moolman J. C., Brink P. A., Corfield V. A., Identification of a novel Ala797Thr mutation in exon 21 of the -myosin heavy chain gene in hypertrophic cardiomyopathy Human Mutation 1995 6 2 197 198
38. Enjuto M., Francino A., Navarro-Lpez F., Viles D., Paré J. C., Ballesta A. M., Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in -myosin heavy chain gene Journal of Molecular and Cellular Cardiology 2000 32 12 2307 2313 (Pubitemid 32039781)
39. Watkins H., Thierfelder L., Hwang D. S., McKenna W., Seidman J. G., Seidman C. E., Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations The Journal of Clinical Investigation 1992 90 5 1666 1671
40. Fang C. X., Dong F., Thomas D. P., Ma H., He L., Ren J., Hypertrophic cardiomyopathy in high-fat diet-induced obesity: role of suppression of forkhead transcription factor and atrophy gene transcription American Journal of Physiology 2008 295 3 H1206 H1215
41. Moretti A., Weig H. J., Ott T., Seyfarth M., Holthoff H. P., Grewe D., Gillitzer A., Bott-Flgel L., Schmig A., Ungerer M., Laugwitz K. L., Essential myosin light chain as a target for caspase-3 in failing myocardium Proceedings of the National Academy of Sciences of the United States of America 2002 99 18 11860 11865 (Pubitemid 34994489)
42. Rajapurohitam V., Gan X. T., Kirshenbaum L. A., Karmazyn M., The obesity-associated peptide leptin induces hypertrophy in neonatal rat ventricular myocytes Circulation Research 2003 93 4 277 279 (Pubitemid 37048239)
43. Rayment I., Holden H. M., Whittaker M., Yohn C. B., Lorenz M., Holmes K. C., Milligan R. A., Structure of the actin-myosin complex and its implications for muscle contraction Science 1993 261 5117 58 65 (Pubitemid 23265380)