Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain

Neuromuscular Disorders

Volumn 20, Issue 3, 2010, Pages 178-187

  Vernengo, Luis ^a   Chourbagi, Oussama ^b   Panuncio, Ana ^c   Lilienbaum, Alain ^b   Batonnet Pichon, Sabrina ^b   Bruston, Francine ^b   Rodrigues Lima, Fernando ^b   Mesa, Rosario ^c   Pizzarossa, Carlos ^c   Demay, Laurence ^d   Richard, Pascale ^d   Vicart, Patrick ^b   Rodriguez, Maria Mirta ^a  

^a DEPARTAMENTO DE BIOQUÍMICA   (Uruguay)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c UNIVERSIDAD DE LA REPÚBLICA   (Uruguay)

^d INSERM   (France)

Author keywords

Cardiomyopathy; Desmin mutation p.E114del; Desminopathy; Granulofilamentous material; Mitochondrial paracrystallin inclusions; Skeletal myopathy

Indexed keywords

DESMIN;

ADULT; AGED; ANIMAL CELL; AORTA SUBVALVULAR STENOSIS; ARTICLE; ARTIFICIAL HEART PACEMAKER; CARDIOMYOPATHY; CHILD; CLINICAL ARTICLE; CODON; COMPUTER ASSISTED TOMOGRAPHY; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; ELECTROMYOGRAM; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; HEART ARRHYTHMIA; HEART ATRIUM ENLARGEMENT; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MOUSE; MUSCLE ATROPHY; MUSCLE MITOCHONDRION; MUSCULAR DYSTROPHY; MYOPATHY; NONHUMAN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SUDDEN DEATH; URUGUAY;

EID: 77950518810     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.01.001     Document Type: Article

References (32)

1. Goldfarb L.G., Dalakas M.C. Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J Clin Invest 2009, 119:1806-1813.
2. Goldfarb L.G., Vicart P., Goebel H.H., Dalakas M.C. Desmin myopathy. Brain 2004, 127:723-734.
3. Dalakas M.C., Park K.Y., Semino-Mora C., et al. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 2000, 342:770-780.
4. Goebel H.H. Desmin-related myopathies. Curr Opin Neurol 1997, 10:426-429.
5. Goebel H., Fardeau M. 121st ENMC International Workshop on desmin and protein aggregate myopathies. 7-9 November 2003, Naarden, the Netherlands. Neuromuscul Disord 2004, 14:767-773.
6. Milner D.J., Taffet G.E., Wang X., et al. The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function. J Mol Cell Cardiol 1999, 31:2063-2076.
7. Arbustini E., Morbini P., Grasso M., et al. Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits. J Am Coll Cardiol 1998, 31:645-653.
8. Fuchs E., Cleveland D.W. A structural scaffolding of intermediate filaments in health and disease. Science 1998, 279:514-519.
9. Vicart P., Dupret J.M., Hazan J., et al. Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. Hum Genet 1996, 98:422-429.
10. Pruszczyk P., Kostera-Pruszczyk A., Shatunov A., et al. Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation. Int J Cardiol 2007, 117:244-253.
11. Carlsson L., Thornell L.E. Desmin-related myopathies in mice and man. Acta Physiol Scand 2001, 171:341-348.
12. Munoz-Marmol A.M., Strasser G., Isamat M., et al. A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci USA 1998, 95:11312-11317.
13. Bar H., Mucke N., Kostareva A., et al. Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages. Proc Natl Acad Sci USA 2005, 102:15099-15104.
14. Sjoberg G., Saavedra-Matiz C.A., Rosen D.R., et al. A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. Hum Mol Genet 1999, 8:2191-2198.
15. Taylor M.R., Slavov D., Ku L., et al. Prevalence of desmin mutations in dilated cardiomyopathy. Circulation 2007, 115:1244-1251.
16. Smith T.A., Steinert P.M., Parry D.A. Modeling effects of mutations in coiled-coil structures: case study using epidermolysis bullosa simplex mutations in segment 1a of k5/k14 intermediate filaments. Proteins 2004, 55:1043-1052.
17. Li D., Tapscoft T., Gonzalez O., et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 1999, 100:461-464.
18. Schroder R., Goudeau B., Simon M.C., et al. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Hum Mol Genet 2003, 12:657-669.
19. Olive M., Goldfarb L., Moreno D., et al. Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies. J Neurol Sci 2004, 219:125-137.
20. Nakano S., Engel A.G., Waclawik A.J., Emslie-Smith A.M., Busis N.A. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol 1996, 55:549-562.
21. Haubold K., Herrmann H., Langer S.J., et al. Acute effects of desmin mutations on cytoskeletal and cellular integrity in cardiac myocytes. Cell Motil Cytoskeleton 2003, 54:105-121.
22. Milner D.J., Mavroidis M., Weisleder N., Capetanaki Y. Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function. J Cell Biol 2000, 150:1283-1298.
23. Reipert S., Steinbock F., Fischer I., et al. Association of mitochondria with plectin and desmin intermediate filaments in striated muscle. Exp Cell Res 1999, 252:479-491.
24. Bar H., Kostareva A., Sjoberg G., et al. Forced expression of desmin and desmin mutants in cultured cells: impact of myopathic missense mutations in the central coiled-coil domain on network formation. Exp Cell Res 2006, 312:1554-1565.
25. Dagvadorj A., Olive M., Urtizberea J.A., et al. A series of west European patients with severe cardiac and skeletal myopathy associated with a de novo r406w mutation in desmin. J Neurol 2004, 251:143-149.
26. Goudeau B., Rodrigues-Lima F., Fischer D., et al. Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. Hum Mutat 2006, 27:906-913.
27. Bar H., Fischer D., Goudeau B., et al. Pathogenic effects of a novel heterozygous r350p desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. Hum Mol Genet 2005, 14:1251-1260.
28. Parry D.A. Microdissection of the sequence and structure of intermediate filament chains. Adv Protein Chem 2005, 70:113-142.
29. Smith T.A., Strelkov S.V., Burkhard P., Aebi U., Parry D.A. Sequence comparisons of intermediate filament chains: evidence of a unique functional/structural role for coiled-coil segment 1a and linker l1. J Struct Biol 2002, 137:128-145.
30. Parry D.A., Steinert P.M. Intermediate filaments: molecular architecture, assembly, dynamics and polymorphism. Q Rev Biophys 1999, 32:99-187.
31. Strelkov S.V., Herrmann H., Geisler N., et al. Divide-and-conquer crystallographic approach towards an atomic structure of intermediate filaments. J Mol Biol 2001, 306:773-781.
32. Kreplak L., Bar H. Severe myopathy mutations modify the nanomechanics of desmin intermediate filaments. J Mol Biol 2009, 385:1043-1051.