Desmin myopathy

Brain

Volumn 127, Issue 4, 2004, Pages 723-734

  Goldfarb, Lev G ^a,d   Vicart, P ^b   Goebel, H H ^c   Dalakas, M C ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

B crystallin; Cardiomyopathy; Desmin; Desmin myopathy; Desmin related myopathy; Myofibrillar myopathy

Indexed keywords

ALPHA CRYSTALLIN; AMINO ACID; CYTOSKELETON PROTEIN; DESMIN; PROLINE; PROTEIN SUBUNIT;

ALPHA HELIX; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BREATHING MUSCLE; BULBAR PARALYSIS; DESMIN MYOPATHY; DIAGNOSTIC APPROACH ROUTE; DISEASE ASSOCIATION; EARLY DIAGNOSIS; FACE MUSCLE; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENETIC COUNSELING; HEART ARRHYTHMIA; HEART PACING; HUMAN; IMMUNOHISTOCHEMISTRY; LEG MUSCLE; MISSENSE MUTATION; MUSCLE WEAKNESS; MUTATION; MUTATIONAL ANALYSIS; MYOPATHY; NECK MUSCLE; NERVE BLOCK; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; PHYSIOTHERAPY; POINT MUTATION; PRIORITY JOURNAL; REVIEW; SKELETAL MUSCLE; SUDDEN DEATH; TREATMENT INDICATION;

ALPHA-CRYSTALLIN B CHAIN; AMINO ACID SEQUENCE; DESMIN; HUMANS; MOLECULAR SEQUENCE DATA; MUSCULAR DISEASES; MUTATION; PHENOTYPE;

EID: 1842734895     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awh033     Document Type: Review

References (87)

1. Abraham SC, DeNofrio D, Loh E, Minda JM, Tomaszewski JE, Pietra GG, et al. Desmin myopathy involving cardiac, skeletal, and vascular smooth muscle: report of a case with immunoelectron microscopy. Hum Pathol 1998; 29: 876-82.
2. Agbulut O, Li Z, Mouly V, Butler-Browne G. Analysis of skeletal and cardiac muscle from desmin knock-out and normal mice by high resolution separation of myosin heavy-chain isoforms. Biol Cell 1996; 88: 131-5.
3. Agbulut O, Li Z, Perie S, Ludosky MA, Paulin D, Cartaud J, et al. Lack of desmin results in abortive muscle regeneration and modifications in synaptic structure. Cell Motil Cytoskeleton 2001; 49: 51-66.
4. Amato AA, Kagan-Hallet K, Jackson CE, Lampkin S, Wolfe GI, Ferrante M, et al. The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis. Neurology 1998; 51: 1646-55.
5. Ariza A, Coll J, Fernandez-Figueras MT, Lopez MD, Mate JL, Garcia O, et al, Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle. Hum Pathol 1995; 26: 1032-7.
6. Bang ML, Gregorio C, Labeit S. Molecular dissection of the interaction of desmin with the C-terminal region of nebulin. J Struct Biol 2002; 137: 119-27.
7. Bennardini F, Wrzosek A, Chiesi M. AlphaB-crystallin in cardiac tissue. Circ Res 1992; 71: 288-94
8. Bertini E, Bosman C, Ricci E, Servidei S, Boldrini R, Sabatelli M, et al. Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study. Acta Neuropathol (Berl) 1991; 81: 632-40.
9. Bova MP, Yaron O, Huang Q, Ding L, Haley DA, Stewart PL, et al. Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function. Proc Natl Acad Sci USA 1999; 96: 6137-42.
10. Bowles NE, Jimenez S, Vatta M, Chrisco M, Szmuszkovicz J, Capetanaki Y, et al. Familial restrictive cardiomyopathy caused by a missense mutation in the desmin gene. Pediatric Res 2002; 51 Suppl: 2.
11. Brakenhoff RH, Guerts van Kessel AH, Oldenburg M, Wijnen JT, Bloemendal H, Meera Khan P, et al. Human alpha B-crystallin (CRYA2) gene mapped to chromosome 11q12-q23. Hum Genet 1990; 85: 237-40.
12. Brown JH, Cohen C, Parry DA. Heptad breaks in α-helical coiled coils: stutters and stammers. Proteins 1996; 26: 134-45.
13. Capetanaki Y, Milner DJ, Weitzer G. Desmin in muscle formation and maintenance: knockouts and consequences. Cell Struct Funct 1997; 22: 103-16.
14. Carlsson L, Fischer C, Sjoberg G, Robson RM, Sejersen T, Thornell L-E. Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation. Acta Neuropathol (Berl) 2002; 104: 493-504.
15. Caron A, Chapon F. Desmin phosphorylation abnormalities in cytoplasmic body and desmin-related myopathies. Muscle Nerve 1999; 22: 1122-5.
16. ChavezZobel AT, Loranger A, Marceau N, Theriault JR, Lambert H, Landry J. Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G alphaB-crystallin mutant. Hum Mol Genet 2003; 12: 1609-20.
17. Clark JI, Muchowski PJ. Small heat-shock proteins and their potential role in human disease. Curr Opin Struct Biol 2000; 10: 52-9.
18. Dagvadorj A, Goudeau B, Hilton-Jones D, Blancato JK, Shatunov A, Simon-Casteras M, et al. Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment. Muscle Nerve 2003a; 27: 669-75.
19. Dagvadorj A, Olivé M, Urtizberea J-A, Halle M, Bönnemann C, Park K-Y, 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. In press 2003b.
20. Dalakas MC, Park K-Y, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. New Engl J Med 2000; 342: 770-80.
21. Dalakas MC, Vasconcelos OM, Kaminska A, Kwiesciski H, Hilton-Jones D, Squier W, et al. Desmin myopathy: distinct filamentopathy caused by mutations in the desmin gene. Acta Myologica 2002; 21: 138-43.
22. Dalakas MC, Dagvadorj A, Goudeau B, Park K-Y, Takeda K, Simon-Casteras M, et al. Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations. Neuromuscul Disord 2003; 13: 252-8.
23. DeBleecker JL, Engel AG, Ertl BB. Myofibrillar myopathy with abnormal foci of desmin positivity. 2. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurolol 1996; 55: 563-77.
24. Duprey P, Paulin D. What can be learned from intermediate filament gene regulation in the mouse embryo. Int J Dev Biol 1995; 39: 443-57.
25. Emery AEH. The muscular dystrophies. Lancet 2002; 359: 687-95.
26. Engel AG. Myofibrillar myopathy. Ann Neurol 1999; 46: 681-3.
27. Fardeau M, Godet-Guillain J, Tome FM, Collin H, Gaudeau S, Boffety C, et al. Une nouvelle affection musculaire familiale, definie par l'accumulatìon intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique. Rev Neurol (Paris) 1978; 134: 411-25.
28. Fardeau M, Vicart P, Caron A, Chateau D, Chevallay M, Collin H, et al. Myopathie familiale avec surcharge en desmine, sous forme de matériel granulo-filamentaire dense en microscopie électronique, avec mutation dans le gène de l'alpha-B-cristalline. Rev Neurol (Paris) 2000; 156: 497-504.
29. Fuchs E, Cleveland DW. A structural scaffolding of intermediate filaments in health and disease. Science 1998; 279: 514-9.
30. Goebel HH. Desmin-related neuromuscular disorders. Muscle Nerve 1995; 18: 1306-20.
31. Goebel HH, Warlo IAP. Progress in desmin-related myopathies. J Child Neurol 2000; 15: 565-72.
32. Goebel HH, Voit T, Warlo I, Jacobs K, Johannsen U, Muller CR. Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy. Rev Neurol (Paris) 1994; 150: 452-9.
33. Goebel HH, D'Agostino AN, Wilson J, Cole G, Faroud T, Koller D, et al. Spheroid body myopathy - revisited. Muscle Nerve 1997: 20: 1127-36.
34. Goldfarb LG, Park KY, Cervenakova L, Gorokhova S, Lee HS, Vasconcelos O, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998; 19: 402-3.
35. Goudeau B, Dagvadorj A, Rodrigues-Lima F, Nédellec P, Casteras-Simon M, Perret E, et al. Structural and functional analysis of a new desmin variant causing desmin-related myopathy. Hum Mutat 2001; 18: 388-96.
36. Hartl F. Molecular chaperones in cellular protein folding. Nature 1996; 381: 571-9.
37. Heimburg T, Schuenemann J, Weber K, Geisler N. Specific recognition of coiled coils by infrared spectroscopy: analysis of the three structural domains of type III intermediate filament proteins. Biochemistry 1996; 35: 1375-82.
38. Herrmann H, Haner M, Brettel M, Muller SA, Goldie KN, Fedtke B, et al. Structure and assembly properties of the intermediate filament protein vimentin: the role of its head, rod and tail domains. J Mol Biol 1996; 264: 933-53.
39. Herrmann H, Strelkov SV, Feja B, Rogers KR, Brettel M, Lustig A, et al. The intermediate filament protein consensus motif of helix 2B: its atomic structure and contribution to assembly. J Mol Biol 2000; 298: 817-32.
40. Hoffman E. Desminopathies: good stuff lost, garbage gained, or the trashman misdirected? Muscle Nerve 2003; 27: 643-5.
41. Horowitz SH, Schmalbruch H. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve 1994; 17: 151-60.
42. Iwaki A, Iwaki T, Goldman JE, Liem RK. Multiple mRNAs of rat brain alpha-crystallin B chain result from alternative transcriptional initiation. J Biol Chem 1990; 265: 22197-203.
43. Kaminska A, Strelkov SV, Goudeau B, Olivé M, Dagvadorj A, Fidzianska A, et al. Small deletions disturb desmin architecture and result in breakdown of muscle cell and development of skeletal or cardioskeletal myopathy. Hum Genet. In press 2003.
44. Lacolley P, Challande P, Boumaza S, Cohuet G, Laurent S, Boutouyrie P, et al. Mechanical properties and structure of carotid arteries in mice lacking desmin. Cardiovasc Res 2001; 51: 178-87.
45. Lazarides E. Intermediate filaments as mechanical integrators of cellular space. Nature 1980; 238: 249-56.
46. Li D, Tapscoft T, Gonzalez O, Burch PE, Quinones MA, Zoghbi WA, et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 1999; 100: 461-4.
47. Li M, Dalakas MC. Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations. Ann Neurol 2001; 49: 532-6.
48. Li Z, Lilienbaum A, Butler-Browne G, Paulin D. Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development. Gene 1989; 78: 243-54.
49. Li Z, Colucci-Guyon E, Pinçon-Raymond M, Mericskay M, Pournin S, Paulin D, et al. Cardiovascular lesions and skeletal myopathy in mice lacking desmin. Dev Biol 1996; 175: 362-6.
50. Lobrinus JA, Janzer RC, Kuntzer T, Matthieu J-M, Pfend G, Goy J-J, et al. Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration. Neuromuscul Disord 1998; 8: 77-86.
51. MacArthur MW, Thornton JM. Influence of proline residues on protein conformation. J Mol Biol 1991; 218: 397-412.
52. Melberg A, Oldfors A, Blomström-Lundqvist C, Stȧlberg E, Carlsson B, Larsson E, et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol 1999; 46: 684-92.
53. Milner DJ, Weitzer G, Tran D, Bradley A, Capetanaki Y. Disruption of muscle architecture and myocardial degeneration in mice lacking desmin. J Cell Biol 1996; 134: 1255-70.
54. Muchowski PJ, Bassuk JA, Lubsen NH, Clark JI. Human alphaB-crystallin. Small heat shock protein and molecular chaperone. J Biol Chem 1997; 272: 2578-82.
55. Muñoz-Mármol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, et al. A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci USA 1998; 95: 11312-7.
56. Nakano S, Engel AG, Waclawik AJ, Emslie-Smith AM, Busis NA. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurolol 1996; 55: 549-62.
57. Nakano S, Engel AG, Akiguchi I, Kimura J. Myofibrillar myopathy. III. Abnormal expression of cyclin-dependent kinases and nuclear proteins. J Neuropathol Exp Neurolol 1997; 56: 850-6.
58. Nicolao P, Xiang F, Gunnarsson L-G, Giometto B, Edström L, Anvret M, et al. Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. Am J Hum Genet 1999; 64: 788-92.
59. Park KY, Dalakas MC, Goebel HH, Ferrans VJ, Semino-Mora C, Litvak S, et al. Desmin splice variants causing cardiac and skeletal myopathy. J Med Genet 2000a; 37: 851-7.
60. Park K-Y, Dalakas MC, Semino-Mora C, Lee HS, Litvak S, Takeda K, et al. Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation. Clin Genet 2000b; 57: 423-9.
61. Perng MD, Muchowski PJ, van den Ijssel P, Wu GH, Hutcheson AM, Clark JI, et al. The cardiomyopathy and lens cataract mutation in alphaB-crystallin alters its protein structure, chaperone activity, and interaction with intermediate filaments in vitro. J Biol Chem 1999; 274: 33235-43.
62. Price MG. Molecular analysis of intermediate filament cytoskeleton - putative load-bearing structure. Am J Physiol 1984; 246: H566-72.
63. Raats JMH, Henderik JBJ, Verdijk M, van Oort FLG, Gerards WLH, Ramaekers FC, et al. Assembly of carboxy-terminally deleted desmin in vimentin-free cells. Eur J Cell Biol 1991; 56: 84-103.
64. Raats JM, Schaart G, Henderik JB, van der Kemp A, Dunia I, Benedetti EL, et al. Muscle-specific expression of a dominant negative desmin mutant in transgenic mice. Eur J Cell Biol 1996; 71: 221-36.
65. Rappaport L, Contard F, Samuel JL, Delcayre C, Marotte F, Tomé F, et al. Storage of phosphorylated desmin in a familial myopathy. FEBS Lett 1988; 231: 421-5.
66. Rogers KR, Eckelt A, Nimmrich V, Janssen KP, Schliwa M, Herrmann H, et al. Truncation mutagenesis of the non-alpha-helical carboxyterminal tail domain of vimentin reveals contributions to cellular localization but not to filament assembly. Eur J Cell Biol 1995; 66: 136-50.
67. Schröder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, 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: 657-69.
68. Selcen D, Ohno K, Engel AG. Clinical and genetic analysis of 40 patients with myofibrillar myopathy (MFM) [abstract]. Neurology 2002a; 58 (7 Suppl 3): A389-90.
69. Selcen D, Ohno K, Engel AG. Analysis of 53 patients with myofibrillar myopathy [abstract]. J Neurol Sci 2002b; 199 Suppl 1: S102.
70. Selcen D, Engel AG. Myofibrillar myopathy caused by novel dominant negative αB-crystallin mutations. Ann Neurol 2003; 54: 804-10.
71. Sjoberg G, Saavedra-Matiz CA, Rosen DR, Wijsman EM, Borg K, Horowitz SH, 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: 2191-8.
72. Strelkov SV, Herrmann H, Geisler N, Lustig A, Ivaninskii S, Zimbelmann R, et al. Divide-and-conquer crystallographic approach towards an atomic structure of intermediate filaments. J Mol Biol 2001; 306: 773-81.
73. Strelkov SV, Burkhard P. Analysis of alpha-helical coiled coils with the program TWISTER reveals a structural mechanism for stutter compensation. J Struct Biol 2002; 137: 54-64.
74. Strelkov SV, Herrmann H, Geisler N, Wedig T, Zimbelmann R, Aebi U, et al. Conserved segments 1A and 2B of the intermediate filament dimer: their atomic structures and role in filament assembly. EMBO J 2002; 21: 1255-66.
75. Strelkov SV, Herrmann H, Aebi U. Molecular architecture of intermediate filaments. BioEssays 2003; 25: 243-51.
76. Sugawara M, Kato K, Komatsu M, Wada C, Kawamura K, Shindo PS, et al. A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. Neurology 2000; 55: 986-90.
77. Thornell L-E, Carlsson L, Li Z, Mericskay M, Paulin D. Null mutation in the desmin gene gives rise to a cardiomyopathy. J Mol Cell Cardiol 1997; 29: 2107-24.
78. VanderKooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, et al. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology 2002; 59: 620-3.
79. Vicart P, Caron A, Guicheney P, Li Z, Prevost M-C, Faure A, et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998; 20: 92-5.
80. Viegas-Péquignot E, Li Z, Dutrillaux B, Apiou F, Paulin D. Assignment of human desmin gene to band 2q35 by non-radioactive in situ hybridization. Hum Genet 1989; 83: 33-6.
81. Wang K, Spector A. Alpha-crystallin prevents irreversible protein denaturation and acts cooperatively with other heat-shock proteins to renature the stabilized partially denatured protein in an ATP-dependent manner. Eur J Biochem 2000; 267: 4705-12.
82. Wang X, Osinska H, Dorn GW 2nd, Nieman M, Lorenz JN, Gerdes AM, et al. Mouse model of desmin-related cardiomyopathy. Circulation 2001a; 103: 2402-7.
83. Wang X, Osinska H, Klevitsky R, Gerdes AM, Nieman M, Lorenz J, et al. Expression of R120G-alphaB-crystallin causes aberrant desmin and alphaB-crystallin aggregation and cardiomyopathy in mice. Circ Res 2001b; 89: 84-91.
84. Wang X, Osinska H, Gerdes AM, Robbins J. Desmin filaments and cardiac disease: establishing causality. J Card Fail 2002; 8 (6 Suppl): S287-92.
85. Weber K, Geisler N. Intermediate filaments: structural conservation and divergence. Ann NY Acad Sci 1985; 455: 126-43.
86. Wilhelmsen KC, Blake DM, Lynch T, Mabutas J, De Vera M, Neystat M, et al. Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy. Ann Neurol 1996; 39: 507-20.
87. Yu KR, Hijikata T, Lin ZX, Sweeney HL, Englander SW, Holtzer H. Truncated desmin in PtK2 cells induces desmin-vimentin-cytokeratin coprecipitation, involution of intermediate filament networks, and nuclear fragmentation: a model for many degenerative diseases. Proc Natl Acad Sci USA 1994; 91: 2497-501.