Desmin-related myopathy

Clinical Genetics

Volumn 80, Issue 4, 2011, Pages 354-366

  Van Spaendonck Zwarts, K Y ^a   Van Hessem, L ^a   Jongbloed, J D H ^a   De Walle, H E K ^a   Capetanaki, Y ^b   Van der Kooi, A J ^c   Van Langen, I M ^a   Van den Berg, M P ^a   Van Tintelen, J P ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b BIOMEDICAL RESEARCH FOUNDATION   (Greece)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Cardiac phenotype; Cardiomyopathy; Desmin; Mutation; Myopathy

Indexed keywords

DESMIN;

ARTICLE; CLINICAL FEATURE; DEFIBRILLATOR; DESMIN RELATED MYOPATHY; DNA DETERMINATION; GENE MUTATION; GENOTYPE; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE; HUMAN; INHERITANCE; META ANALYSIS; MOLECULAR GENETICS; MUSCLE WEAKNESS; MYOPATHY; PRIORITY JOURNAL; SUDDEN DEATH;

ARRHYTHMIAS, CARDIAC; CARDIOMYOPATHIES; DESMIN; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; INHERITANCE PATTERNS; MUSCULAR DISEASES; MUTATION;

EID: 80052620743     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01512.x     Document Type: Article

References (81)

1. Selcen D. Myofibrillar myopathies. Curr Opin Neurol 2008: 21: 585-589.
2. Dalakas MC, Park KY, 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.
3. Goldfarb LG, Park KY, Cervenakova L et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998: 19: 402-403.
4. Vicart P, Caron A, Guicheney P et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998: 20: 92-95.
5. Selcen D, Engel AG. Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol 2003: 54: 804-810.
6. Lazarides E. Intermediate filaments as mechanical integrators of cellular space. Nature 1980: 283: 249-256.
7. Price MG. Molecular analysis of intermediate filament cytoskeleton - a putative load-bearing structure. Am J Physiol 1984: 246: H566-H572.
8. Perng MD, Cairns L, van den IJ et al. Intermediate filament interactions can be altered by HSP27 and alphaB-crystallin. J Cell Sci 1999: 112: 2099-2112.
9. Goldfarb LG, Olive M, Vicart P, Goebel HH. Intermediate filament diseases: desminopathy. Adv Exp Med Biol 2008: 642: 131-164.
10. Goldfarb LG, Dalakas MC. Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J Clin Invest 2009: 119: 1806-1813.
11. Kostera-Pruszczyk A, Pruszczyk P, Kaminska A, Lee H, Goldfarb L. Diversity of cardiomyopathy phenotypes caused by mutations in desmin. Int J Cardiol 2008: 131: 146-147.
12. Fischer D, Kley RA, Strach K et al. Distinct muscle imaging patterns in myofibrillar myopathies. Neurology 2008: 71: 758-765.
13. Olive M, Armstrong J, Miralles F et al. Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene. Neuromuscul Disord 2007: 17: 443-450.
14. van Tintelen JP, Van Gelder IC, Asimaki A et al. Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. Heart Rhythm 2009: 6: 1574-1583.
15. Dagvadorj A, Goudeau B, Hilton-Jones D et al. Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment. Muscle Nerve 2003: 27: 669-675.
16. Boriek AM, Capetanaki Y, Hwang W et al. Desmin integrates the three-dimensional mechanical properties of muscles. Am J Physiol Cell Physiol 2001: 280: C46-C52.
17. Bar H, Goudeau B, Walde S et al. Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. Hum Mutat 2007: 28: 374-386.
18. Ariza A, Coll J, Fernandez-Figueras MT et al. Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle. Hum Pathol 1995: 26: 1032-1037.
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. Reilich P, Schoser B, Schramm N et al. The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. Neuromuscul Disord 2010: 20: 255-259.
21. Dagvadorj A, Olive M, Urtizberea JA 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.
22. Park KY, Dalakas MC, Semino-Mora C et al. Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation. Clin Genet 2000: 57: 423-429.
23. Sugawara M, Kato K, Komatsu M et al. A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. Neurology 2000: 55: 986-990.
24. Munoz-Marmol AM, 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.
25. Pinol-Ripoll G, Shatunov A, Cabello A et al. Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. Neuromuscul Disord 2009: 19: 418-422.
26. Li ZL, 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: 243-254.
27. Weber K, Geisler N. Intermediate filaments: structural conservation and divergence. Ann N Y Acad Sci 1985: 455: 126-143.
28. Fuchs E, Weber K. Intermediate filaments: structure, dynamics, function, and disease. Annu Rev Biochem 1994: 63: 345-382.
29. Capetanaki Y, Bloch RJ, Kouloumenta A, Mavroidis M, Psarras S. Muscle intermediate filaments and their links to membranes and membranous organelles. Exp Cell Res 2007: 313: 2063-2076.
30. Bar H, Sharma S, Kleiner H et al. Interference of amino-terminal desmin fragments with desmin filament formation. Cell Motil Cytoskelet 2009: 66: 986-999.
31. Bar H, Schopferer M, Sharma S et al. Mutations in desmin's carboxy-terminal "tail" domain severely modify filament and network mechanics. J Mol Biol 2010: 397: 1188-1198.
32. Schopferer M, Bar H, Hochstein B et al. Desmin and vimentin intermediate filament networks: their viscoelastic properties investigated by mechanical rheometry. J Mol Biol 2009: 388: 133-143.
33. Sharma S, Mucke N, Katus HA, Herrmann H, Bar H. Disease mutations in the "head" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties. J Mol Med 2009: 87: 1207-1219.
34. 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: 1255-1270.
35. Milner DJ, Taffet GE, 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.
36. Milner DJ, Mavroidis M, Weisleder N, Capetanaki Y. Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function. J Cell Biol 2000: 150: 1283-1298.
37. Capetanaki Y. Desmin cytoskeleton: a potential regulator of muscle mitochondrial behavior and function. Trends Cardiovasc Med 2002: 12: 339-348.
38. Schroder R, Goudeau B, Simon MC 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.
39. Otten E, Asimaki A, Maass A et al. Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. Hearth Rhythm 2010: 7: 1058-1064.
40. Panagopoulou P, Davos CH, Milner DJ et al. Desmin mediates TNF-alpha-induced aggregate formation and intercalated disk reorganization in heart failure. J Cell Biol 2008: 181: 761-775.
41. Brakenhoff RH, Guerts van Kessel AH, Oldenburg M et al. Human alpha B-crystallin (CRYA2) gene mapped to chromosome 11q12-q23. Hum Genet 1990: 85: 237-240.
42. Dubin RA, Ally AH, Chung S, Piatigorsky J. Human alpha B-crystallin gene and preferential promoter function in lens. Genomics 1990: 7: 594-601.
43. Inagaki N, Hayashi T, Arimura T et al. Alpha B-crystallin mutation in dilated cardiomyopathy. Biochem Biophys Res Commun 2006: 342: 379-386.
44. Berry V, Francis P, Reddy MA et al. Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet 2001: 69: 1141-1145.
45. Goebel HH. Desmin-related neuromuscular disorders. Muscle Nerve 1995: 18: 1306-1320.
46. 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.
47. Jessup M, Abraham WT, Casey DE et al. 2009 focused update: ACCF/AHA Guidelines for the Diagnosis and Management of Heart Failure in Adults: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines: developed in collaboration with the International Society for Heart and Lung Transplantation. Circulation 2009: 119: 1977-2016.
48. Weisleder N, Taffet GE, Capetanaki Y. Bcl-2 overexpression corrects mitochondrial defects and ameliorates inherited desmin null cardiomyopathy. Proc Natl Acad Sci USA 2004: 101: 769-774.
49. Muntoni F, Bonne G, Goldfarb LG et al. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain 2006: 129: 1260-1268.
50. Arbustini E, Pasotti M, Pilotto A et al. Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. Eur J Heart Fail 2006: 8: 477-483.
51. Arias M, Pardo J, Blanco-Arias P et al. Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation. Neuromuscul Disord 2006: 16: 498-503.
52. 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.
53. Clemen CS, Fischer D, Reimann J et al. How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy. Hum Mutat 2009: 30: E490-E499.
54. Dalakas MC, Dagvadorj A, Goudeau B et al. Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations. Neuromuscul Disord 2003: 13: 252-258.
55. Dunand M, Lobrinus JA, Jeannet PY et al. Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. Neuromuscul Disord 2009: 19: 802.
56. Fidzianska A, Kotowicz J, Sadowska M et al. A novel desmin R355P mutation causes cardiac and skeletal myopathy. Neuromuscul Disord 2005: 15: 525-531.
57. Goudeau B, Dagvadorj A, Rodrigues-Lima F et al. Structural and functional analysis of a new desmin variant causing desmin-related myopathy. Hum Mutat 2001: 18: 388-396.
58. 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.
59. Hager S, Mahrholdt H, Goldfarb LG, Goebel HH, Sechtem U. Images in cardiovascular medicine. Giant right atrium in the setting of desmin-related restrictive cardiomyopathy. Circulation 2006: 113: e53-e55.
60. Kaminska A, Strelkov SV, Goudeau B et al. Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. Hum Genet 2004: 114: 306-313.
61. Li D, Tapscoft T, Gonzalez O et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 1999: 100: 461-464.
62. Luethje LG, Boennemann C, Goldfarb L, Goebel HH, Halle M. Prophylactic implantable cardioverter defibrillator placement in a sporadic desmin related myopathy and cardiomyopathy. Pacing Clin Electrophysiol 2004: 27: 559-560.
63. Miyamoto Y, Akita H, Shiga N et al. Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene mutation in a Japanese population. Eur Heart J 2001: 22: 2284-2289.
64. Park KY, Dalakas MC, Goebel HH et al. Desmin splice variants causing cardiac and skeletal myopathy. J Med Genet 2000: 37: 851-857.
65. Pica EC, Kathirvel P, Pramono ZA, Lai PS, Yee WC. Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. Neuromuscul Disord 2008: 18: 178-182.
66. Saavedra-Matiz CA, Chapman NH, Wijsman EM, Horowitz SH, Rosen DR. Linkage of hereditary distal myopathy with desmin accumulation to 2q. Hum Hered 2000: 50: 166-170.
67. Schroder R, Goudeau B, Simon MC et al. Corrigendum on noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Hum Mol Genet 2007: 12: 1-2.
68. Sjoberg G, Saavedra-Matiz CA, Rosen DR 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.
69. Strach K, Sommer T, Grohe C et al. Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies. Neuromuscul Disord 2008: 18: 475-482.
70. Taylor MR, Slavov D, Ku L et al. Prevalence of desmin mutations in dilated cardiomyopathy. Circulation 2007: 115: 1244-1251.
71. Vernengo L, Chourbagi O, Panuncio A et al. 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 2010: 20: 178-187.
72. Vrabie A, Goldfarb LG, Shatunov A et al. The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation. Acta Neuropathol 2005: 109: 411-417.
73. Yuri T, Miki K, Tsukamoto R et al. Autopsy case of desminopathy involving skeletal and cardiac muscle. Pathol Int 2007: 57: 32-36.
74. Bergman JE, Veenstra-Knol HE, van Essen AJ et al. Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene. Eur J Med Genet 2007: 50: 355-366.
75. Horowitz SH, Schmalbruch H. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve 1994: 17: 151-160.
76. Lobrinus JA, Janzer RC, Kuntzer T et al. Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration. Neuromuscul Disord 1998: 8: 77-86.
77. Zimmerman RS, Cox S, Lakdawala NK et al. A novel custom resequencing array for dilated cardiomyopathy. Genet Med 2010: 12: 268-278.
78. Rankin J, Ellard S. The laminopathies: a clinical review. Clin Genet 2006: 70: 261-274.
79. Mogensen J, Arbustini E. Restrictive cardiomyopathy. Curr Opin Cardiol 2009: 24: 214-220.
80. van Berlo JH, de Voogt WG, van der Kooi AJ et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? J Mol Med 2005: 83: 79-83.
81. van Tintelen JP, Hofstra RM, Katerberg H et al. High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. Am Heart J 2007: 154: 1130-1139.