Pathomechanisms of inflammatory myopathies: Recent advances and implications for diagnosis and therapies

Expert Opinion on Medical Diagnostics

Volumn 4, Issue 3, 2010, Pages 241-250

  Schmidt, Jens ^a   Dalakas, Marinos C ^b  

^a UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

amyloid; Autophagy; Muscle inflammation; T cell co stimulation

Indexed keywords

5 [4 (2 DIETHYLAMINOETHYLAMINO) 3 NITROPHENYL] 1,4 DIPHENYL 1,2,4 TRIAZOLIUM 3 THIOLATE; ALPHA CRYSTALLIN; AMINO ACID TRANSFER RNA LIGASE; AMYLOID BETA PROTEIN; AUTOANTIBODY; BETA CRYSTALLIN; CD8 ANTIGEN; COMPLEMENT; IMMUNOGLOBULIN G; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; PREDNISONE;

AUTOIMMUNE DISEASE; AUTOPHAGY; CELLULAR IMMUNITY; CELLULAR STRESS RESPONSE; CEREBROVASCULAR DISEASE; DEGENERATIVE DISEASE; DERMATOMYOSITIS; DIABETES MELLITUS; DYSTROPHY; HISTOLOGY; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS; HUMAN T CELL LEUKEMIA VIRUS 1; HUMORAL IMMUNITY; IMMUNOHISTOCHEMISTRY; IMMUNOPATHOLOGY; IMMUNOSUPPRESSIVE TREATMENT; INCLUSION BODY MYOSITIS; MACROPHAGE; MUSCLE BIOPSY; MUSCLE ISCHEMIA; MYOPATHY; MYOSITIS; NECROTISING MYOPATHY; PATHOGENESIS; POLYMYOSITIS; REVIEW; SIGNAL TRANSDUCTION; THERAPY EFFECT; TREATMENT PLANNING;

EID: 77953805119     PISSN: 17530059     EISSN: 17530067     Source Type: Journal    
DOI: 10.1517/17530051003713499     Document Type: Review

References (90)

1. Needham M, Corbett A, Day T, et al. Prevalence of sporadic inclusion body myositis and factors contributing to delayed diagnosis. J Clin Neurosci 2008;15:1350-1353
2. Banker BQ, Victor M. Dermatomyositis (systemic angiopathy) of childhood. Medicine 1966;45:261-289
3. Banker BQ. Dermatomyostis of childhood, ultrastructural alteratious of muscle and intramuscular blood vessels. J Neuropathol Exp Neurol 1975;34:46-75
4. de Visser M, Emslie-Smith AM, Engel AG. Early ultrastructural alterations in adult dermatomyositis. Capillary abnormalities precede other structural changes in muscle. J Neurol Sci 1989;94:181-192
5. Jerusalem F, Rakusa M, Engel AG, MacDonald RD. Morphometric analysis of skeletal muscle capillary ultrastructure in inflammatory myopathies. J Neurol Sci 1974;23:391-402
6. Carpenter S, Karpati G, Rothman S, Watters G. The childhood type of dermatomyositis. Neurology 1976;26:952-962
7. Whitaker JN, Engel WK. Vascular deposits of immunoglobulin and complement in idiopathic inflammatory myopathy. N Engl J Med 1972;286:333-338
8. Kissel JT, Mendell JR, Rammohan KW. Microvascular deposition of complement membrane attack complex in dermatomyositis. N Engl J Med 1986;314:329-334
9. Emslie-Smith AM, Engel AG. Microvascular changes in early and advanced dermatomyositis: a quantitative study. Ann Neurol 1990;27:343-356
10. Dalakas MC. Polymyositis, dermatomyositis and inclusion-body myositis. N Engl J Med 1991;325:1487-1498
11. Basta M, Dalakas MC. High-dose intravenous immunoglobulin exerts its beneficial effect in patients with dermatomyositis by blocking endomysial deposition of activated complement fragments. J Clin Invest 1994;94:1729-1735
12. Dalakas MC, Hohlfeld R. Polymyositis and dermatomyositis. Lancet 2003;362:971-982
13. Amemiya K, Semino-Mora C, Granger RP, Dalakas MC. Downregulation of TGF-beta1 mRNA and protein in the muscles of patients with inflammatory myopathies after treatment with high-dose intravenous immunoglobulin. Clin Immunol 2000;94:99-104
14. Gallardo E, de AI, Illa I. Cathepsins are upregulated by IFN-gamma/STAT1 in human muscle culture: a possible active factor in dermatomyositis. J Neuropathol Exp Neurol 2001;60:847-855
15. Confalonieri P, Bernasconi P, Megna P, et al. Increased expression of beta-chemokines in muscle of patients with inflammatory myopathies. J Neuropathol Exp Neurol 2000;59:164-169
16. De Bleecker JL, De Paepe B, Vanwalleghem IE, Schroder JM. Differential expression of chemokines in inflammatory myopathies. Neurology 2002;58:1779-1785
17. Raju R, Vasconcelos O, Granger R, Dalakas MC. Expression of IFN-gamma-inducible chemokines in inclusion body myositis. J Neuroimmunol 2003;141:125-131
18. Dalakas MC. Immunopathogenesis of inflammatory myopathies. Ann Neurol 1995;37 (Suppl 1):S74-S86
19. Greenberg SA, Pinkus GS, Amato AA, Pinkus JL. Myeloid dendritic cells in inclusion-body myositis and polymyositis. Muscle Nerve 2007;35:17-23
20. Greenberg SA, Pinkus JL, Pinkus GS, et al. Interferon-alpha/beta-mediated innate immune mechanisms in dermatomyositis. Ann Neurol 2005;57:664-678
21. Walsh RJ, Kong SW, Yao Y, et al. Type I interferon-inducible gene expression in blood is present and reflects disease activity in dermatomyositis and polymyositis. Arthritis Rheum 2007;56:3784-3792
22. Raju R, Dalakas MC. Gene expression profile in the muscles of patients with inflammatory myopathies: effect of therapy with IVIg and biological validation of clinically relevant genes. Brain 2005;128:1887-1896
23. Tezak Z, Hoffman EP, Lutz JL, et al. Gene expression profiling in DQA1*0501+ children with untreated dermatomyositis: a novel model of pathogenesis. J Immunol 2002;168:4154-4163
24. Mimori T, Imura Y, Nakashima R, Yoshifuji H. Autoantibodies in idiopathic inflammatory myopathy: an update on clinical and pathophysiological significance. Curr Opin Rheumatol 2007;19:523-529
25. Hengstman GJ, Vree Egberts WT, Seelig HP, et al. Clinical characteristics of patients with myositis and autoantibodies to different fragments of the Mi-2 beta antigen. Ann Rheum Dis 2006;65:242-245
26. Dimitri D, Benveniste O, Dubourg O, et al. Shared blood and muscle CD8+ T-cell expansions in inclusion body myositis. Brain 2006;129:986-995
27. Salajegheh M, Rakocevic G, Raju R, et al. T cell receptor profiling in muscle and blood lymphocytes in sporadic inclusion body myositis. Neurology 2007;69:1672-1679
28. Fyhr IM, Moslemi AR, Mosavi AA, et al. Oligoclonal expansion of muscle infiltrating T cells in inclusion body myositis. J Neuroimmunol 1997;79:185-189
29. Lindberg C, Oldfors A, Tarkowski A. Restricted use of T cell receptor V genes in endomysial infiltrates of patients with inflammatory myopathies. Eur J Immunol 1994;24:2659-2663
30. O'Hanlon TP, Dalakas MC, Plotz PH, Miller FW. Predominant TCR-alpha beta variable and joining gene expression by muscle-infiltrating lymphocytes in the idiopathic inflammatory myopathies. J Immunol 1994;152:2569-2576
31. Benveniste O, Herson S, Salomon B, et al. Long-term persistence of clonally expanded T cells in patients with polymyositis. Ann Neurol 2004;56:867-872
32. Wiendl H, Hohlfeld R, Kieseier BC. Immunobiology of muscle: advances in understanding an immunological microenvironment. Trends Immunol 2005;26:373-380
33. Dalakas MC. Mechanisms of disease: signaling pathways and immunobiology of inflammatory myopathies. Nat Clin Pract Rheumatol 2006;2:219-227
34. Amemiya K, Granger RP, Dalakas MC. Clonal restriction of T-cell receptor expression by infiltrating lymphocytes in inclusion body myositis persists over time. Studies in repeated muscle biopsies. Brain 2000;123:2030-2039
35. Hofbauer M, Wiesener S, Babbe H, et al. Clonal tracking of autoaggressive T cells in polymyositis by combining laser microdissection, single-cell PCR, and CDR3-spectratype analysis. Proc Natl Acad Sci USA 2003;100:4090-4095
36. Benveniste O, Cherin P, Maisonobe T, et al. Severe perturbations of the blood T cell repertoire in polymyositis, but not dermatomyositis patients. J Immunol 2001;167:3521-3529
37. Tews DS, Goebel HH. Cytokine expression profile in idiopathic inflammatory myopathies. J Neuropathol Exp Neurol 1996;55:342-347
38. De Bleecker JL, Meire VI, Declercq W, Van Aken EH. Immunolocalization of tumor necrosis factor-alpha and its receptors in inflammatory myopathies. Neuromuscul Disord 1999;9:239-246
39. Dalakas MC. Molecular immunology and genetics of inflammatory muscle diseases. Arch Neurol 1998;55:1509-1512
40. De Paepe B, Creus KK, De Bleecker JL. Role of cytokines and chemokines in idiopathic inflammatory myopathies. Curr Opin Rheumatol 2009;21:610-616
41. De Paepe B, Creus KK, De Bleecker JL. Chemokines in idiopathic inflammatory myopathies. Front Biosci 2008;13:2548-2577
42. De Rossi M, Bernasconi P, Baggi F, et al. Cytokines and chemokines are both expressed by human myoblasts: possible relevance for the immune pathogenesis of muscle inflammation. Int Immunol 2000;12:1329-1335
43. Choi YC, Dalakas MC. Expression of matrix metalloproteinases in the muscle of patients with inflammatory myopathies. Neurology 2000;54:65-71
44. Kieseier BC, Schneider C, Clements JM, et al. Expression of specific matrix metalloproteinases in inflammatory myopathies. Brain 2001;124:341-351
45. Karpati G, Pouliot Y, Carpenter S. Expression of immunoreactive major histocompatibility complex products in human skeletal muscles. Ann Neurol 1988;23:64-72
46. Emslie-Smith AM, Arahata K, Engel AG. Major histocompatibility complex class I antigen expression, immunolocalization of interferon subtypes, and T cell-mediated cytotoxicity in myopathies. Hum Pathol 1989;20:224-231
47. van der Pas J, Hengstman GJD, ter Laak HJ, et al. Diagnostic value of MHC class I staining in idiopathic inflammatory myopathies. J Neurol Neurosurg Psychiatry 2004;75:136-139
48. Badrising UA, Schreuder GMT, Giphart MJ, et al. Associations with autoimmune disorders and HLA class I and II antigens in inclusion body myositis. Neurology 2004;63:2396-2398
49. Needham M, James I, Corbett A, et al. Sporadic inclusion body myositis: phenotypic variability and influence of HLA-DR3 in a cohort of 57 Australian cases. J Neurol Neurosurg Psychiatry 2008;79:1056-1060
50. Mastaglia FL, Needham M, Scott A, et al. Sporadic inclusion body myositis: HLA-DRB1 allele interactions influence disease risk and clinical phenotype. Neuromuscul Disord 2009;19:763-765
51. Schmidt J, Rakocevic G, Raju R, Dalakas MC. Upregulated inducible co-stimulator (ICOS) and ICOS-ligand in inclusion body myositis muscle: significance for CD8(+) T cell cytotoxicity. Brain 2004;127:1182-1190
52. Behrens L, Kerschensteiner M, Misgeld T, et al. 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 1998;161:5943-5951
53. Greenwald RJ, Freeman GJ, Sharpe AH. The B7 family revisited. Annu Rev Immunol 2005;23:515-548
54. Wiendl H, Mitsdoerffer M, Schneider D, et al. Muscle fibres and cultured muscle cells express the B7.1/2-related inducible co-stimulatory molecule, ICOSL: implications for the pathogenesis of inflammatory myopathies. Brain 2003;126:1026-1035
55. Sugiura T, Kawaguchi Y, Harigai M, et al. Increased CD40 expression on muscle cells of polymyositis and dermatomyositis: role of CD40-CD40 ligand interaction in IL-6, IL-8, IL-15, and monocyte chemoattractant protein-1 production. J Immunol 2000;164:6593-6600
56. Bradshaw EM, Orihuela A, McArdel SL, et al. A local antigen-driven humoral response is present in the inflammatory myopathies. J Immunol 2007;178:547-556
57. Dalakas MC. Therapeutic targets in patients with inflammatory myopathies: present approaches and a look to the future. Neuromuscular Disord 2006;16:223-236
58. Goebels N, Michaelis D, Engelhardt M, et al. Differential expression of perforin in muscle-infiltrating T cells in polymyositis and dermatomyositis. J Clin Invest 1996;97:2905-2910
59. Hohlfeld R, Engel AG. Coculture with autologous myotubes of cytotoxic T cells isolated from muscle in inflammatory myopathies. Ann Neurol 1991;29:498-507
60. Waschbisch A, Wintterle S, Lochmuller H, et al. Human muscle cells express the costimulatory molecule B7-H3, which modulates muscle-immune interactions. Arthritis Rheum 2008;58:3600-3608
61. Wiendl H, Mitsdoerffer M, Schneider D, et al. Human muscle cells express a B7-related molecule, B7-H1, with strong negative immune regulatory potential: a novel mechanism of counterbalancing the immune attack in idiopathic inflammatory myopathies. FASEB J 2003;17:1892-1894
62. Dalakas MC. Inflammatory, immune, and viral aspects of inclusion-body myositis. Neurology 2006;66:S33-8
63. Cupler EJ, Leon-Monzon M, Miller J, et al. Inclusion body myositis in HIV-1 and HTLV-1 infected patients. Brain 1996;119:1887-1893
64. Dalakas MC, Rakocevic G, Shatunov A, et al. IBM with HIV infection: 4 new cases with clonal expansion of viral-specific T cells. Ann Neurol 2007;61:466-475
65. Ozden S, Cochet M, Mikol J, et al. Direct evidence for a chronic CD8+-T-cell-mediated immune reaction to tax within the muscle of a human T-cell leukemia/lymphoma virus type 1-infected patient with sporadic inclusion body myositis. J Virol 2004;78:10320-10327
66. Schmidt J, Barthel K, Wrede A, et al. Interrelation of inflammation and APP in sIBM: IL-1 beta induces accumulation of beta-amyloid in skeletal muscle. Brain 2008;131:1228-1240
67. Kitazawa M, Trinh DN, LaFerla FM. Inflammation induces tau pathology in inclusion body myositis model via glycogen synthase kinase-3beta. Ann Neurol 2008;64:15-24
68. Nagaraju K, Raben N, Merritt G, et al. A variety of cytokines and immunologically relevant surface molecules are expressed by normal human skeletal muscle cells under proinflammatory stimuli. Clin Exp Immunol 1998;113:407-414
69. Banwell BL, Engel AG. alpha B-crystallin immunolocalization yields new insights into inclusion body myositis. Neurology 2000;54:1033-1041
70. Muth IE, Barthel K, Bahr M, et al. Proinflammatory cell stress in sporadic inclusion body myositis muscle: overexpression of alphaB-crystallin is associated with amyloid precursor protein and accumulation of beta-amyloid. J Neurol Neurosurg Psychiatry 2009;80:1344-1349
71. Kumamoto T, Ueyama H, Tsumura H, et al. Expression of lysosome-related proteins and genes in the skeletal muscles of inclusion body myositis. Acta Neuropathol 2004;107:59-65
72. Ventruti A, Cuervo AM. Autophagy and neurodegeneration. Curr Neurol Neurosci Rep 2007;7:443-451
73. Lunemann JD, Schmidt J, Schmid D, et al. Beta-amyloid is a substrate of autophagy in sporadic inclusion body myositis. Ann Neurol 2007;61:476-483 (Pubitemid 46878775)
74. Schmid D, Munz C. Localization and MHC class II presentation of antigens targeted for macroautophagy. Methods Mol Biol 2008;445:213-225
75. Maiuri MC, Zalckvar E, Kimchi A, Kroemer G. Self-eating and self-killing: crosstalk between autophagy and apoptosis. Nat Rev Mol Cell Biol 2007;8:741-752
76. Dalakas MS. Sporadic inclusion body myositis: diagnosis, pathogenesis and therapeutic strategies. Nat Clin Prac Neurol 2006;2:437-447
77. Needham M, Fabian V, Knezevic W, et al. Progressive myopathy with upregulation of MHC-I associated with statin therapy. Neuromuscul Disord 2007;17:194-200
78. Askanas V, Engel WK. Inclusion-body myositis: muscle-fiber molecular pathology and possible pathogenic significance of its similarity to Alzheimer's and Parkinson's disease brains. Acta Neuropathol 2008;116:583-595
79. Abdo WF, van Mierlo T, Hengstman GJ, et al. Increased plasma amyloid-beta42 protein in sporadic inclusion body myositis. Acta Neuropathol 2009;118:429-431
80. Salajegheh M, Pinkus JL, Nazareno R, et al. Nature of 'Tau' immunoreactivity in normal myonuclei and inclusion body myositis. Muscle Nerve 2009;40:520-528
81. Muscle Study Group. Randomized pilot trial of high-dose betaINF-1a in patients with inclusion body myositis. Neurology 2004;63:718-720
82. Dalakas MC, Sonies B, Dambrosia J, et al. Treatment of inclusion-body myositis with IVIg: a double-blind, placebo-controlled study. Neurology 1997;48:712-716
83. Walter MC, Lochmuller H, Toepfer M, et al. High-dose immunoglobulin therapy in sporadic inclusion body myositis: a double-blind, placebo-controlled study. J Neurol 2000;247:22-28
84. Barohn RJ, Herbelin L, Kissel JT, et al. Pilot trial of etanercept in the treatment of inclusion-body myositis. Neurology 2006;66:S123-4
85. Dalakas MC. Immunotherapy of myositis: issues, concerns and future prospects. Nat Rev Rheumatol 2010;6:129-137
86. Lindberg C, Trysberg E, Tarkowski A, Oldfors A. Anti-T-lymphocyte globulin treatment in inclusion body myositis: a randomized pilot study. Neurology 2003;61:260-262
87. Dalakas MC, Rakocevic G, Schmidt J, et al. Effect of Alemtuzumab (CAMPATH 1-H) in patients with inclusion-body myositis. Brain 2009;132:1536-1544
88. Dalakas MC. B cells as therapeutic targets in autoimmune neurological disorders. Nat Clin Pract Neurol 2008;4:557-567
89. Kitazawa M, Vasilevko V, Cribbs DH, LaFerla FM. Immunization with amyloid-beta attenuates inclusion body myositis-like myopathology and motor impairment in a transgenic mouse model. J Neurosci 2009;29:6132-6141
90. Chahin N, Engel AG. Correlation of muscle biopsy, clinical course, and outcome in PM and sporadic IBM. Neurology 2008;70:418-424