Chapter 29 Molecular pathogenesis of inflammatory myopathies and future therapeutic strategies

Supplements to Clinical Neurophysiology

Volumn 57, Issue C, 2004, Pages 288-303

  Dalakas, Marinos C ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MODEL; GENETICS; HUMAN; IMMUNOLOGY; MOLECULAR BIOLOGY; MYOSITIS; PATHOLOGY; REVIEW; SKELETAL MUSCLE;

HUMANS; MODELS, BIOLOGICAL; MOLECULAR BIOLOGY; MUSCLE, SKELETAL; MYOSITIS;

EID: 25144488576     PISSN: 1567424X     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S1567-424X(09)70365-4     Document Type: Article

References (92)

1. Amemiya K., Granger R.P., and Dalakas M.C. Clonal restriction of T-cell receptor expression by infiltrating lymphocytes in inclusion body myositis persists over time: studies in repeated muscle biopsies. Brain 123 (2000) 2030-2039
2. Amemiya K., Semino-Mora C., Granger R.P., and Dalakas M.C. Downregulation of TGF-β1 mRNA and protein in the muscles of patients with inflammatory myopathies after treatment with high-dose intravenous immunoglobulin. Clin. Immunol. 94 (2000) 99-104
3. Arahata K., and Engel A.G. Monoclonal antibody analysis of mononuclear cells in myopathies III. Immunoelectron microscopy aspects of cell-mediated muscle fiber injury. Ann. Neurol. 19 (1986) 112-125
4. Askanas V., and Engel W.K. Proposed pathogenic cascade of inclusion-body myositis: importance of amyloid-beta, misfolded proteins, predisposing genes, and aging. Curr. Opin. Rheumatol. 15 (2003) 737-744
5. Askanas V., Serdaroglu P., Engel W.K., and Alvarez R.B. Immunocytochemical localization of ubiquitin in inclusion body myositis allows its light-microscopic distinction from polymyositis. Neurology 42 (1992) 460-461
6. Banker B.Q. Dermatomyositis of childhood. Ultrastructural alterations of muscle and intramuscular blood vessels. J. Neurop. Exp. Neurol. 35 (1975) 46-75
7. Barohn R.J., Amato A.A., Sahenk Z., Kissel J.T., and Mendell J.R. Inclusion body myositis, explanation for poor response to immunosuppressive therapy. Neurology 45 (1995) 1302-1304
8. Basta M., and Dalakas M.C. High-dose intravenous immunoglobulin exerts its beneficial effect in patients with dermatomyositis by blocking endomysial deposition of activated complement fragments. J. Clin. Invest. 94 (1994) 1729-1735
9. Behrens L., Bender A., Johnson M.A., and Hohlfeld R. Cytotoxic mechanisms in inflammatory myopathies: co-expression of Fas and protective Bcl-2 in muscle fibers and inflammatory cells. Brain 120 (1997) 929
10. Behrens L., Kerschensteiner M., Misgeld T., Goebels N., Wekerle H., and Hohlfeld R. Human muscle cells express a functional costimulatory molecule distinct from B7.1 (CD80) and B7.2 (CD86) in vitro and in inflammatory lesions. J. Immunol. 161 (1998) 5943-5951
11. Bender A., Ernst N., Iglesias A., Dornmair K., Wekeria H., and Hohlfeid R. T Cell Receptor repertoire in polymyositis: clonal expansion of autoaggresive CD8 T Cells. J. Exp. Med. 181 (1995) 1863-1868
12. Benveniste O., Cherin P., Maisonobe T., et al. Severe perturbations of the blood T cell repertoire in Polymyositis, but not dermatomyositis patients. J. Immunol. 167 (2001) 3521-3529
13. Bombardieri S., Hughes G.R.V., Neri R., Del Bravo P., and Del Bono L. Cyclophosphamide in severe polymyositis. Lancet 1 (1989) 1138-1139
14. Carpenter S., Karpati G., Rothman S., and Walters G. The childhood type of dermatomyositis. Neurology 26 (1976) 952-962
15. Cherin P., Herson S., Wechsler B., et al. Efficacy of intravenous immunoglobulin therapy in chronic refractory polymyositis and dermatomyositis. An open study with 20 adult patients. Am. J. Med. 91 (1991) 162-168
16. Choi Y.C., and Dalakas M.C. Expression of matrix metal-loproteinases in the muscle of patients with inflammatory myopathies. Neurology 54 (2000) 65-71
17. Confalonieri P., Bernasconi P., Megna P., Galbiati S., Cornelio F., and Mantegazza R. Increased expression of beta-chemokines in muscle of patients with inflammatory myopathies. J. Neuropathol. Exp. Neurol. 59 (2000) 164-169
18. Cronin M.E., Miller F.W., Hicks J.E., Dalakas M., and Plotz P.H. The failure of intravenous cyclophosphamide therapy in refractory idiopathic inflammatory myopathy. J. Rheumatol. 16 (1989) 1225-1228
19. Cupler E.J., Leon-Monzon M., Miller J., Semino-Mora C., Anderson T.L., and Dalakas M.C. Inclusion body myositis in HIV-I and HTLV-I infected patients. Brain 119 (1996) 1887-1893
20. Dalakas M.C. Polymyositis, dermatomyositis and inclusionbody myositis. N. Engl. J. Med. 325 (1991) 1487-1498
21. Dalakas M.C. Current treatment of the inflammatory myopathies. Curr. Opin. Rheumatol. 6 (1994) 595-601
22. Dalakas M.C. Immunopathogenesis of inflammatory mayopathies. Ann. Neurol. 37 Suppl. 1 (1995) S74-S86
23. Dalakas M.C. Intravenous immunoglobulin therapy for neurological diseases. Ann. Intern. Med. 126 (1997) 721-730
24. Dalakas M.C. Controlled studies with high-dose intravenous immunoglobulin in the treatment of dermatomyositis, inclusion body myositis and polymyositis. Neurology 51 (1998) 537-545
25. Dalakas M.C. Molecular Immunology and Genetics of Inflammatory Muscle Diseases. Arch. Neurol. 55 (1998) 1509-1512
26. Dalakas M.C. Intravenous Immunoglobulin in the treatment of autoimmune neuromuscular diseases: present status and practical therapeutic guidelines. Muscle Nerve 22 (1999) 1479-1497
27. Dalakas M.C. The molecular and cellular pathology of inflammatory muscle diseases. Curr. Opin. Pharmacol. 1 (2001) 300-306
28. Dalakas M.C. Muscle biopsy findings in inflammatory myopathies. Rheum. Dis. Clin. N. Am. 28 (2002) 779-798
29. Dalakas M.C. Understanding the immunopathogenesis of inclusion body myositis: present and future prospects. Rev. Neurol. 158 (2002) 948-958
30. Dalakas M.C. Therapeutic strategies in inflammatory myopathies. Semin. Neurol. (2003) 199-206
31. Dalakas M.C. Polymyositis, dermatomyositis and inclusion body myositis. In: Braunwald E., Favci A.S., Kasper D.L., Hauser S.L., Longo D.L., and Jameson J.L. (Eds). Harrison's Principles of Internal Medicine, 16th edn. (2004), McGraw-Hill, New York, N.Y. 2540-2545
32. Dalakas M.C., and Hohlfeld R. Polymyositis and dermatomyositis. Lancet 362 (2003) 971-982
33. Dalakas M.C., and Hohlfeld R. Diagnostic criteria for polymyositis and dermatomyositis. Lancet 362 (2003) 1762-1763
34. Dalakas M.C., and Karpati G. The inflammatory myopathies. In: Karpati G., Hilton-Jones D., and Griggs R.C. (Eds). Disorders of Voluntary Muscle, 7th edn. (2001), Cambridge University Press 636-659
35. Dalakas M.C., and Pezeshkpour G.H. Neuromuscular diseases associated with human immunodeficiency virus infection. Ann. Neurol. 23 S (1988) 38-48
36. Dalakas M.C., London W.T., Gravell M., and Sever J.L. Polymyositis in an immunodeficiency disease in monkeys induced by a type D retrovirus. Neurology 36 (1986) 569-572
37. Dalakas M.C., Pezeshkpour G.H., Gravell M., and Sever J.L. Polymyositis in patients with AIDS. JAMA 256 (1986) 2381-2383
38. Dalakas M.C., Illa I., Pezeshkpour G.H., Laukaitis J.P., Cohen B., and Griffin J. Mitochondrial myopathy caused by long-term zidovudine therapy. N. Engl. J. Med. 332 (1990) 1098-1105
39. Dalakas M.C., Illa I., Dambrosia J.M., Soueidan S.A., Stein D.P., Otero C., Dinsmore S.T., and McCrosky S. A controlled trial of high-dose intravenous immunoglobulin infusions as treatment for dermatomyositis. N. Engl. J. Med. 329 (1993) 1993-2000
40. Dalakas M.C., Sekul E.A., Cupler E.J., and Sivakumar K. The efficacy of high dose intravenous immunoglobulin (IVIg) in patients with inclusion-body myositis (IBM). Neurology 48 (1997) 712-716
41. Dalakas M.C., Koffman B., Fujii M., Spector S., Sivakumar K., and Cupler E. A controlled study of intravenous immunoglobulin combined with prednisone in the treatment of IBM. Neurology 56 (2001) 323-327
42. De Bleecker J.L., De Paepe B., Vanwalleghem I.E., and Schroder J.M. Differentia expression of chemokines in inflammatory myopathies. Neurology 58 (2002) 1779-1785
43. Eisenberg I., Avidan N., Potikha T., Hochner H., Chen M., Olender T., Barash M., Shemesh M., Sadeh M., Grabov-Nardini G., Shmilevich I., Friedmann A., Karpati G., Bradley W.G., Baumbach L., Lancet D., Asher E.B., Beckmann J.S., Argov Z., and Mitrani-Rosenbaum S. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat. Genet. 29 (2001) 83-89
44. Emslie-Smith A.M., and Engel A.G. Microvascular changes in early and advanced dermatomyositis: A quantitative study. Ann. Neurol. 27 (1990) 343-356
45. Emslie-Smith A.M., Arahata K., and Engel A.G. Major histocompatibility complex class I antigen expression, immunolocalization of interferon subtypes and T-cell-mediated cytotoxicity in myopathies. Hum. Pathol. 20 (1989) 224-231
46. Fyhr I.M., Moslemi A.R., Mosavi A.A., Lindberg C., Tarkowski A., and Oldfors A. Oligoclonal expansion of muscle infiltrating T cells in inclusion body myositis. J. Neuroimmunol. 79 (1997) 185-189
47. Goebel N., Michaelis D., Engelhardt M., Huber S., Bender A., et al. Differental expression of perforin in muscleinfiltrating T cell in polymyositis and dermatomyositis. J. Clin. Invest. 97 (1996) 2905
48. Grau J.M., Herrero C., Casademont J., et al. Cyclosporine A as first choice for dermatomyositis. J. Rheumatol. 21 (1994) 381-382
49. Griggs R.C., Askanas V., Di Mauro S., et al. Inclusion body myositis and myopathies. Ann. Neurol. 38 (1995) 705-713
50. Halloran P.F. Sirollimus and ciclosporin for renal transplantation. Lancet 356 (2000) 179-180
51. Heckmatt J., Hasson N., Saunders C., et al. Cyclosporin in juvenile dermatomyositis. Lancet 1 (1989) 1063-1066
52. Hengstman G.J.D., Van Engelen B.G.M., Egberts W.T.M.V., and Van Venrooij W.J. Myositis-specific autoantibodies: overview and recent developments. Curr. Opin. Rheumatol. 13 (2001) 476-482
53. Hofbauer M., Wiesner S., Babbe H., et al. Clonal tracking of autoagressive T cells in polymyositis by combining laser microdissection, single-cell PCR and CDR3 spectratype analysis. Proc. Natl. Acad. Sci. USA 100 (2003) 4090-4095
54. Hohlfeld R., and Dalakas M.C. Basic principles of immunotherapy in neurological diseases. Sem. Neurol. 23 (2003) 121-132
55. Hohlfeld R., and Engel A.G. The immunobiology of muscle. Immunol. Today 15 (1994) 269-274
56. Huizing M., Rakocevic G., Sparks S.E., Mammali I., Goldfarb L., Krasnewich D., Gahl W.A., and Dalakas M.C. Hypoglycosylation of a-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol. Genet. Metab. 81 (2004) 196-202
57. Illa I., Nath A., and Dalakas M.C. Immunocytochemical and virological characteristics of HIV-associated inflammatory myopathies: similarities with seronegative Polymyositis. Ann. Neurol. 29 (1991) 474-481
58. Jan S., Beretta S., Moggio M., Alobbati L., and Pellegrini G. High-dose intravenous human immunoglobulin in polymyositis resistant to treatment. J. Neurol. Neurosurg. Psychiatry 55 (1992) 60-64
59. Karpati G., Pouliot Y., and Carpenter S. Expression of immunoreactive major histocapability complex products in human skeletal muscles. Ann. Neurol. 23 (1988) 64-72
60. Kelly Jr. J.J., Madoc-Jones H., Adelman L.S., Andres P.L., and Munsat T.L. Total body irradiation not effective in inclusion body myositis. Neurology 36 (1986) 1264-1266
61. Kissel J.T., Mendell J.R., and Rammohan K.W. Microvascular deposition of complement membrane attack complex in dermatomyositis. N. Engl. J. Med. 314 (1986) 329-334
62. Koffman B.M., Rugiero M., and Dalakas M.C. Autoimmune diseases and autoantibodies associated with sporadic inclusion body myositis. Muscle Nerve 21 (1998) 115-117
63. Koffman B.M., Sivakumar K., Simonis T., Stroncek D., and Dalakas M.C. HLA allele distribution distinguishes sporadic inclusion body myositis from hereditary inclusion body myopathies. J. Neuroimmunol. 84 (1998) 139-142
64. Lang B., Laxer R.M., Murphy G., et al. Treatment of dermatomyositis with intravenous immunoglobulin. Am. J. Med. 91 (1991) 169-172
65. Leff R.L., Love L.A., Miller F.W., Greenberg S.J., Klein E.A., Dalakas M.C., and Plotz P.H. Viruses in the idiopathic inflammatory myopathies: absence of candidate viral genomes in muscle. Lancet 339 (1992) 1192-1195
66. Leon-Monzon M., and Dalakas M.C. Absence of persistent infection with enteroviruses in muscles of patients with inflammatory myopathies. Ann. Neurol. 32 (1992) 219-222
67. Leon-Monzon M., Illa I., and Dalakas M.C. Polymyositis in patients infected with HTLV-I: The role of the virus in the cause of the disease. Ann. Neurol. 36 (1994) 643-649
68. Li M., and Dalakas M.C. Expression of human IAP-like protein in skeletal muscle: an explanation for the rare incidence of muscle fiber apoptosis in T-cell mediated inflammatory myopathies. J. Neuroimmunol. 106 (2000) 1-5
69. Liang L., and Sha W.C. The right place at the right time: novel B7 family members regulate effector T cell function. Curr. Opin. Immunol. 14 (2002) 384-390
70. Luciano C.A., and Dalakas M.C. A macro-EMG study in inclusion-body myositis: no evidence for a neurogenic component. Neurology 48 (1997) 29-33
71. Mantegazza R., Andreetta F., Bernasconi P., et al. Analysis of T cell receptor repertiore of muscle infiltrating T lymphocytes in polymyositis: restricted V a/b rearrangements may indicated antigen-driven selection. J. Clin. Invest. 91 (1993) 2880-2886
72. Mastaglia F.L., and Phillips B.A. Idiopathic inflammatory myopathies: epidemiology, classification and diagnostic criteria. Rheum. Dis. Clin. N. Am. 28 (2002) 23-41
73. Mendell J.R., Sahenk Z., Gales T., and Paul L. Amyloid filaments in inclusion body myositis. Arch. Neurol. 48 (1991) 1229-1234
74. Miller F.W., Leitman S.F., Cronin M.E., et al. A randomized double-blind controlled trial of plasma exchange and leukapheresis in patients with polymyositisand dermatomyositis. N. Eng. J. Med. 326 (1992) 1380-1384
75. Morgan O.St.C., Rodgers-Johnson P., Mora C., and Char G. HTLV-1 and polymyositis in Jamaica. Lancet ii (1989) 1184-1187
76. Murata K., and Dalakas M.C. Expression of the costimulatory molecule BB-1, the ligands CTLA-4 and CD28 and their mRNA in inflammatory myopathies. Am. J. Pathol. 155 (1999) 453-460
77. Nagaraju K., Casciola-Rosen L., Rosen A., Thompson C., Loeffler L., Parker T., Danning C., Rochon P.J., Gillespie J., and Plotz P. The inhibition of apoptosis in myositis and in normal muscle cells. J. Immunol. 164 (2000) 5459-5465
78. Nishio J., Suzuki M., Miyasaka N., and Kohsaka H. Clonal biases of peripheral CD8 T cell repertoire directly reflect local inflammation in polymyositis. J. Immunol. 167 (2001) 4051-4058
79. O'Hanlon T.P., Dalakas M.C., Plotz P.H., and Miller F.W. Predominant I T cell receptor variable and joining gene expression by muscle-infiltrating lymphocytes in the idiopathic inflammatory myopathies. J. Immunol. 152 (1994) 2569-2576
80. Peng A., Koffman B.M., Malley J.D., and Dalakas M.C. Diseases progression in sporadic inclusion body myositis (s-IBM): observation in 78 patients. Neurology 55 (2000) 296-298
81. Raju R., Vasconcelos O.M., Semino-Mora C., Granger R.P., and Dalakas M.C. Expression of Interferon-Gamma inducible chemokines in the muscles of patients with inclusion body myositis. J. Neuroimmunol. 141 (2003) 125-131
82. Santorelli F.M., Sciacco M., Tanji K., et al. Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients. Ann. Neurol. 39 (1996) 789-795
83. + T cell cytotoxicity. Brain 127 (2004) 1182-1190
84. Schneider C., Gold R., Dalakas M.C., Schmied M., Lassmann H., Toyka K.V., and Hartung H.P. MHC class I mediated cytotoxicity does not induce apoptosis in muscle fibers nor in inflammatory T cells: studies in patients with polymyositis, dermatomyositis, and inclusion body myositis. J. Neuropathol. Exp. Neurol. 55 (1996) 1205-1209
85. Schneider C., Dalakas M.C., Toyka K.V., Said G., Hartung H.P., and Gold R. T cell apoptosis in inflammatory neuromuscular disorders associated with human immunodeficiency virus infection. Arch. Neurol. 56 (1999) 79-83
86. Sekul E.A., and Dalakas M.C. Inclusion body myositis: new concepts. Semin. Neurol. 13 (1993) 256-263
87. Sinoway T.A., and Callen J.P. Chlorambucil: An effective corticosteroid-sparing agent for patients with recalcitrant dermatomyositis. Arthritis Rheum. 36 (1993) 319-324
88. Sivakumar K., and Dalakas M.C. The spectrum of familial inclusion body myopathies in 13 families and description of a guadriceps sparing phenotype in non-Iranian Jews. Neurology 47 (1996) 977-984
89. Sivakumar K., Semino-Mora C., and Dalakas M.C. An inflammatory, familial, inclusion body myositis with autoimmune features and a phenotype identical to sporadic inclusion body myositis: studies in 3 families. Brain 120 (1997) 653-661
90. Targoff I.N. Immune mechanisms of myositis. Curr. Opin. Rheumatol. 2 (1990) 882-888
91. Walter M.C., Lochmuller H., Toepfer M., et al. High-dose immunoglobulin therapy in sporadic inclusion body myositis: a double-blind, placebo-controlled study. J. Neurol. 247 (2000) 22-28
92. Wiendel H., Mitsdoerffer M., Schneider D., et al. Muscle fibers and cultured muscle cells express the B7.1/2 related costimulatory molecule ICOSL: implications for the pathogenesis of inflammatory myopathies. Brain 126 (2003) 1026-1035