Common pathways of autoimmune inflammatory myopathies and genetic neuromuscular disorders

Clinical Reviews in Allergy and Immunology

Volumn 42, Issue 1, 2012, Pages 16-25

  Satoh, Minoru ^a   Ceribelli, Angela ^b   Chan, Edward K L ^b  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF FLORIDA   (United States)

Author keywords

Aminoacyl tRNA synthetase; Autoantibodies; Inflammatory myopathy; Motor neuropathy; Paraneoplastic syndrome; Spinal muscular atrophy; Survival of motor neuron

Indexed keywords

ALANINE TRANSFER RNA LIGASE; AMINO ACID TRANSFER RNA LIGASE; ANGIOGENIN; ARGONAUTE 2 PROTEIN; AUTOANTIBODY; DYNACTIN; GLYCINE TRANSFER RNA LIGASE; HEAT SHOCK PROTEIN 27; HISTIDINE TRANSFER RNA LIGASE; ISOLEUCINE TRANSFER RNA LIGASE; PHENYLALANINE TRANSFER RNA LIGASE; PROTEIN P53; SIGNAL RECOGNITION PARTICLE; SUPEROXIDE DISMUTASE; SURVIVAL MOTOR NEURON PROTEIN 1; TAR DNA BINDING PROTEIN; THREONINE TRANSFER RNA LIGASE; TYROSINE TRANSFER RNA LIGASE;

AMYOTROPHIC LATERAL SCLEROSIS; ANTIBODY PRODUCTION; ARTICLE; BREAST CANCER; DERMATOMYOSITIS; DNA PROTEIN COMPLEX; EATON LAMBERT SYNDROME; EXOSOME; GENETIC DISORDER; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MISSENSE MUTATION; MYASTHENIA GRAVIS; NONHUMAN; OPSOCLONUS MYOCLONUS SYNDROME; PARANEOPLASTIC NEUROPATHY; POLYMYOSITIS; PROTEIN DNA INTERACTION; PROTEIN RNA BINDING; RNA PROCESSING; SCLERODERMA; SPINAL MUSCULAR ATROPHY; STIFF MAN SYNDROME; SYSTEMIC LUPUS ERYTHEMATOSUS;

ANIMALS; AUTOANTIBODIES; AUTOIMMUNE DISEASES; DERMATOMYOSITIS; HUMANS; MYOSITIS; NEUROMUSCULAR DISEASES; RNA;

EID: 84857053842     PISSN: 10800549     EISSN: 15590267     Source Type: Journal    
DOI: 10.1007/s12016-011-8286-7     Document Type: Article

References (64)

1. KE Lukong KW Chang EW Khandjian S Richard 2008 RNA-binding proteins in human genetic disease Trends Genet 24 416 425 18597886 10.1016/j.tig.2008.05.004 1:CAS:528:DC%2BD1cXoslChsLY%3D
2. D Baumer O Ansorge M Almeida K Talbot 2010 The role of RNA processing in the pathogenesis of motor neuron degeneration Expert Rev Mol Med 12 e21 20642879 10.1017/S1462399410001523
3. SJ Kolb S Sutton DR Schoenberg 2010 RNA processing defects associated with diseases of the motor neuron Muscle Nerve 41 5 17 19697368 10.1002/mus.21428 1:CAS:528:DC%2BC3cXht1Ogtbg%3D
4. S Lefebvre L Burglen S Reboullet O Clermont P Burlet L Viollet B Benichou C Cruaud P Millasseau M Zeviani, et al. 1995 Identification and characterization of a spinal muscular atrophy-determining gene Cell 80 155 165 7813012 10.1016/0092-8674(95)90460-3 1:CAS:528:DyaK2MXjtFegu74%3D
5. Q Liu G Dreyfuss 1996 A novel nuclear structure containing the survival of motor neurons protein EMBO J 15 3555 3565 8670859 1:CAS:528: DyaK28Xksl2msbg%3D (Pubitemid 26239768)
6. L Pellizzoni J Yong G Dreyfuss 2002 Essential role for the SMN complex in the specificity of snRNP assembly Science 298 1775 1779 12459587 10.1126/science.1074962 1:CAS:528:DC%2BD38XovFKms7w%3D (Pubitemid 35404118)
7. A Chari E Paknia U Fischer 2009 The role of RNP biogenesis in spinal muscular atrophy Curr Opin Cell Biol 21 387 393 19286363 10.1016/j.ceb.2009.02. 004 1:CAS:528:DC%2BD1MXmvFGnsr8%3D
8. AH Burghes CE Beattie 2009 Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci 10 597 609 19584893 10.1038/nrn2670 1:CAS:528:DC%2BD1MXotlSnsrc%3D
9. EM Tan 1989 Antinuclear antibodies: diagnostic markers for autoimmune diseases and probes for cell biology Adv Immunol 44 93 151 2646863 10.1016/S0065-2776(08)60641-0 1:CAS:528:DyaL1MXhslWhtbk%3D (Pubitemid 19090837)
10. M Satoh EKL Chan ES Sobel DL Kimpel Y Yamasaki S Narain R Mansoor WH Reeves 2007 Clinical implication of autoantibodies in patients with systemic rheumatic diseases Expert Rev Clin Immunol 3 721 738 20477023 10.1586/1744666X.3.5.721 1:CAS:528:DC%2BD2sXhtFKjurrP (Pubitemid 47455122)
11. M Satoh JY Chan SJ Ross A Ceribelli I Cavazzana F Franceschini Y Li WH Reeves ES Sobel EK Chan 2011 Autoantibodies to survival of motor neuron (SMN) complex in patients with polymyositis-immunoprecipitation of D-E-F-G without other components of small nuclear ribonucleoproteins Arthritis Rheum 63 1972 1978 21425128 10.1002/art.30349 1:CAS:528:DC%2BC3MXotFyhs74%3D
12. G Meister C Eggert U Fischer 2002 SMN-mediated assembly of RNPs: a complex story Trends Cell Biol 12 472 478 12441251 10.1016/S0962-8924(02)02371-1 1:CAS:528:DC%2BD38Xot1WgtrY%3D (Pubitemid 35346518)
13. S Paushkin AK Gubitz S Massenet G Dreyfuss 2002 The SMN complex, an assemblyosome of ribonucleoproteins Curr Opin Cell Biol 14 305 312 12067652 10.1016/S0955-0674(02)00332-0 1:CAS:528:DC%2BD38XktFSitrs%3D (Pubitemid 34626968)
14. A Antonellis ED Green 2008 The role of aminoacyl-tRNA synthetases in genetic diseases Annu Rev Genomics Hum Genet 9 87 107 18767960 10.1146/annurev.genom.9.081307.164204 1:CAS:528:DC%2BD1cXht1SnsbnM
15. WW Motley K Talbot KH Fischbeck 2010 GARS axonopathy: not every neuron's cup of tRNA Trends Neurosci 33 59 66 20152552 10.1016/j.tins.2009.11.001 1:CAS:528:DC%2BC3cXhs1yjtLk%3D
16. IN Targoff 2002 Laboratory testing in the diagnosis and management of idiopathic inflammatory myopathies Rheum Dis Clin North Am 28 859 890 12506776 10.1016/S0889-857X(02)00032-7 viii (Pubitemid 36008556)
17. M Satoh M Vazquez-Del Mercado EK Chan 2009 Clinical interpretation of antinuclear antibody tests in systemic rheumatic diseases Mod Rheumatol 19 219 228 19277826 10.1007/s10165-009-0155-3 1:CAS:528:DC%2BD1MXms1ygtb4%3D
18. ZE Betteridge H Gunawardena NJ McHugh 2009 Pathogenic mechanisms of disease in myositis: autoantigens as clues Curr Opin Rheumatol 21 604 609 19713851 10.1097/BOR.0b013e328331638a 1:CAS:528:DC%2BD1MXht1WmtrjO
19. H Gunawardena ZE Betteridge NJ McHugh 2009 Myositis-specific autoantibodies: their clinical and pathogenic significance in disease expression Rheumatology (Oxford) 48 607 612 10.1093/rheumatology/kep078 1:CAS:528:DC%2BD1MXmtFCjtLs%3D
20. R Nakashima T Mimori 2010 Clinical and pathophysiological significance of myositis-specific and myositis-associated autoantibodies Int J Clin Rheumatol 5 523 536 10.2217/ijr.10.48 1:CAS:528:DC%2BC3cXht1KgtbfI
21. ZE Betteridge H Gunawardena NJ McHugh 2011 Novel autoantibodies and clinical phenotypes in adult and juvenile myositis Arthritis Res Ther 13 209 21457520 10.1186/ar3275
22. M Satoh HB Richards KJ Hamilton WH Reeves 1997 Human anti-nuclear ribonucleoprotein antigen autoimmune sera contain a novel subset of autoantibodies that stabilizes the molecular interaction of U1RNP-C protein with the Sm core proteins J Immunol 158 5017 5025 9144522 1:CAS:528: DyaK2sXjtFKgsbs%3D (Pubitemid 127483828)
23. M Satoh AK Ajmani L Stojanov JJ Langdon T Ogasawara J Wang MA Dooley HB Richards JB Winfield TH Carter, et al. 1996 Autoantibodies that stabilize the molecular interaction of Ku antigen with DNA dependent protein kinase catalytic subunit Clin Exp Immunol 105 460 467 8809135 10.1046/j.1365-2249.1996.d01-775.x 1:CAS:528:DyaK28XmtFWht7Y%3D (Pubitemid 26297891)
24. TJ Golembe J Yong DJ Battle W Feng L Wan G Dreyfuss 2005 Lymphotropic Herpesvirus saimiri uses the SMN complex to assemble Sm cores on its small RNAs Mol Cell Biol 25 602 611 15632062 10.1128/MCB.25.2.602-611.2005 1:CAS:528:DC%2BD2MXmtVKisQ%3D%3D (Pubitemid 40096582)
25. MR Lunn CH Wang 2008 Spinal muscular atrophy Lancet 371 2120 2133 18572081 10.1016/S0140-6736(08)60921-6 (Pubitemid 351842582)
26. CD Wee L Kong CJ Sumner 2010 The genetics of spinal muscular atrophies Curr Opin Neurol 23 450 458 20733483 10.1097/WCO.0b013e32833e1765 1:CAS:528:DC%2BC3cXhtV2gsbrK
27. C Lagier-Tourenne M Polymenidou DW Cleveland 2010 TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration Hum Mol Genet 19 R46 R64 20400460 10.1093/hmg/ddq137 1:CAS:528:DC%2BC3cXmsVSrt7o%3D
28. M van Blitterswijk JE Landers 2010 RNA processing pathways in amyotrophic lateral sclerosis Neurogenetics 11 275 290 20349096 10.1007/s10048-010-0239-4 1:CAS:528:DC%2BC3cXns1ymsLs%3D
29. P Van Damme W Robberecht 2009 Recent advances in motor neuron disease Curr Opin Neurol 22 486 492 19593125 10.1097/WCO.0b013e32832ffbe3
30. C Lagier-Tourenne DW Cleveland 2009 Rethinking ALS: the FUS about TDP-43 Cell 136 1001 1004 19303844 10.1016/j.cell.2009.03.006 1:CAS:528: DC%2BD1MXltFSntr0%3D
31. Da Cruz S, Cleveland DW (2011) Understanding the role of TDP-43 and FUS/TLS in ALS and beyond. Curr Opin Neurobiol (in press)
32. M Salajegheh JL Pinkus JP Taylor AA Amato R Nazareno RH Baloh SA Greenberg 2009 Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis Muscle Nerve 40 19 31 19533646 10.1002/mus.21386 1:CAS:528: DC%2BD1MXptVaqtr4%3D
33. CC Weihl A Pestronk 2010 Sporadic inclusion body myositis: possible pathogenesis inferred from biomarkers Curr Opin Neurol 23 482 488 20664349 10.1097/WCO.0b013e32833d3897 1:CAS:528:DC%2BC3cXhtV2gsbvM
34. J Yong L Wan G Dreyfuss 2004 Why do cells need an assembly machine for RNA-protein complexes? Trends Cell Biol 14 226 232 15130578 10.1016/j.tcb.2004. 03.010 1:CAS:528:DC%2BD2cXjvVemurk%3D (Pubitemid 38591326)
35. M Stum HM McLaughlin EL Kleinbrink KE Miers SL Ackerman KL Seburn A Antonellis RW Burgess 2011 An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations Mol Cell Neurosci 46 432 443 21115117 10.1016/j.mcn.2010.11.006 1:CAS:528: DC%2BC3MXhtlalu7s%3D
36. KL Seburn LA Nangle GA Cox P Schimmel RW Burgess 2006 An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model Neuron 51 715 726 16982418 10.1016/j.neuron.2006.08.027 1:CAS:528:DC%2BD28XhtVGls7%2FL (Pubitemid 44374911)
37. F Achilli V Bros-Facer HP Williams GT Banks M AlQatari R Chia V Tucci M Groves CD Nickols KL Seburn, et al. 2009 An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy Dis Model Mech 2 359 373 19470612 10.1242/dmm.002527 1:CAS:528:DC%2BD1MXhtVahs7bM
38. A Jordanova J Irobi FP Thomas P Van Dijck K Meerschaert M Dewil I Dierick A Jacobs E De Vriendt V Guergueltcheva, et al. 2006 Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy Nat Genet 38 197 202 16429158 10.1038/ng1727 1:CAS:528:DC%2BD28XotlGkuw%3D%3D (Pubitemid 43177233)
39. GC Scheper T van der Klok RJ van Andel CG van Berkel M Sissler J Smet TI Muravina SV Serkov G Uziel M Bugiani, et al. 2007 Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Nat Genet 39 534 539 17384640 10.1038/ng2013 1:CAS:528:DC%2BD2sXjsV2hs7c%3D (Pubitemid 46514784)
40. LG Riley S Cooper P Hickey J Rudinger-Thirion M McKenzie A Compton SC Lim D Thorburn MT Ryan R Giege, et al. 2010 Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia-MLASA syndrome Am J Hum Genet 87 52 59 20598274 10.1016/j.ajhg.2010.06.001 1:CAS:528:DC%2BC3cXpsFegs7c%3D
41. JW Lee K Beebe LA Nangle J Jang CM Longo-Guess SA Cook MT Davisson JP Sundberg P Schimmel SL Ackerman 2006 Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration Nature 443 50 55 16906134 10.1038/nature05096 1:CAS:528:DC%2BD28XptFCmtbk%3D (Pubitemid 44344044)
42. J Dalmau MR Rosenfeld 2008 Paraneoplastic syndromes of the CNS Lancet Neurol 7 327 340 18339348 10.1016/S1474-4422(08)70060-7 (Pubitemid 351380534)
43. MR Rosenfeld J Dalmau 2010 Update on paraneoplastic and autoimmune disorders of the central nervous system Semin Neurol 30 320 331 20577938 10.1055/s-0030-1255223
44. F Graus A Saiz J Dalmau 2010 Antibodies and neuronal autoimmune disorders of the CNS J Neurol 257 509 517 20035430 10.1007/s00415-009-5431-9 1:CAS:528:DC%2BC3cXktFOjuro%3D
45. K Musunuru 2003 Cell-specific RNA-binding proteins in human disease Trends Cardiovasc Med 13 188 195 12837581 10.1016/S1050-1738(03)00075-6 1:CAS:528:DC%2BD3sXkvF2jsrY%3D (Pubitemid 36802022)
46. RJ Buckanovich YY Yang RB Darnell 1996 The onconeural antigen Nova-1 is a neuron-specific RNA-binding protein, the activity of which is inhibited by paraneoplastic antibodies J Neurosci 16 1114 1122 8558240 1:CAS:528: DyaK28XmsVektg%3D%3D (Pubitemid 26140868)
47. A Didelot J Honnorat 2009 Update on paraneoplastic neurological syndromes Curr Opin Oncol 21 566 572 19620862 10.1097/CCO.0b013e3283306647
48. C Geis A Weishaupt S Hallermann B Grunewald C Wessig T Wultsch A Reif N Byts M Beck S Jablonka, et al. 2010 Stiff person syndrome-associated autoantibodies to amphiphysin mediate reduced GABAergic inhibition Brain 133 3166 3180 20884644 10.1093/brain/awq253
49. T Eystathioy EK Chan SA Tenenbaum JD Keene K Griffith MJ Fritzler 2002 A phosphorylated cytoplasmic autoantigen, GW182, associates with a unique population of human mRNAs within novel cytoplasmic speckles Mol Biol Cell 13 1338 1351 11950943 10.1091/mbc.01-11-0544 1:CAS:528:DC%2BD38Xjt12js70%3D (Pubitemid 34309627)
50. RA Bhanji T Eystathioy EK Chan DB Bloch MJ Fritzler 2007 Clinical and serological features of patients with autoantibodies to GW/P bodies Clin Immunol 125 247 256 17870671 10.1016/j.clim.2007.07.016 1:CAS:528:DC%2BD2sXhtlGhurjI (Pubitemid 350116708)
51. D Alarcon-Segovia A Ruiz-Arguelles E Fishbein 1978 Antibody to nuclear ribonucleoprotein penetrates live human mononuclear cells through Fc receptors Nature 271 67 69 625325 10.1038/271067a0 1:CAS:528:DyaE1cXhsFSnsrw%3D (Pubitemid 8240067)
52. D Alarcon-Segovia 2001 Antinuclear antibodies: to penetrate or not to penetrate, that was the question Lupus 10 315 318 11403260 10.1191/ 096120301669579565 1:STN:280:DC%2BD3MzjsF2mtA%3D%3D (Pubitemid 32520236)
53. PY Lee Y Kumagai Y Li O Takeuchi H Yoshida J Weinstein ES Kellner D Nacionales T Barker K Kelly-Scumpia, et al. 2008 TLR7-dependent and Fc{gamma}R-independent production of type I interferon in experimental mouse lupus J Exp Med 205 2995 3006 19047436 10.1084/jem.20080462 1:CAS:528: DC%2BD1MXosFCm
54. EM Tan 2001 Autoantibodies as reporters identifying aberrant cellular mechanisms in tumorigenesis J Clin Invest 108 1411 1415 11714730 1:CAS:528:DC%2BD3MXosVyrtbg%3D (Pubitemid 33091976)
55. M Abu-Shakra D Buskila M Ehrenfeld K Conrad Y Shoenfeld 2001 Cancer and autoimmunity: autoimmune and rheumatic features in patients with malignancies Ann Rheum Dis 60 433 441 11302861 10.1136/ard.60.5.433 1:CAS:528: DC%2BD3MXjvVajsrY%3D (Pubitemid 32417413)
56. M Reuschenbach DM von Knebel N Wentzensen 2009 A systematic review of humoral immune responses against tumor antigens Cancer Immunol Immunother 58 1535 1544 19562338 10.1007/s00262-009-0733-4 1:CAS:528:DC%2BD1MXptVentr4%3D
57. IN Targoff G Mamyrova EP Trieu O Perurena B Koneru TP O'Hanlon FW Miller LG Rider 2006 A novel autoantibody to a 155-kd protein is associated with dermatomyositis Arthritis Rheum 54 3682 3689 17075819 10.1002/art.22164 1:CAS:528:DC%2BD28Xht12mtLfL (Pubitemid 44737181)
58. K Kaji M Fujimoto M Hasegawa M Kondo Y Saito K Komura T Matsushita H Orito Y Hamaguchi K Yanaba, et al. 2007 Identification of a novel autoantibody reactive with 155 and 140 kDa nuclear proteins in patients with dermatomyositis: an association with malignancy Rheumatology (Oxford) 46 25 28 10.1093/rheumatology/kel161 1:CAS:528:DC%2BD28XhtlChtbbN (Pubitemid 44932779)
59. Gunawardena H, Wedderburn LR, North J, Betteridge Z, Dunphy J, Chinoy H, Davidson JE, Cooper RG, McHugh NJ (2008) Clinical associations of autoantibodies to a p155/140 kDa doublet protein in juvenile dermatomyositis. Rheumatology (Oxford)
60. E Trallero-Araguas M Labrador-Horrillo A Selva-O'Callaghan MA Martinez X Martinez-Gomez E Palou JL Rodriguez-Sanchez M Vilardell-Tarres 2010 Cancer-associated myositis and anti-p155 autoantibody in a series of 85 patients with idiopathic inflammatory myopathy Medicine (Baltimore) 89 47 52 10.1097/MD.0b013e3181ca14ff 1:CAS:528:DC%2BC3cXlslaquw%3D%3D
61. DF Vincent KP Yan I Treilleux F Gay V Arfi B Kaniewski JC Marie F Lepinasse S Martel S Goddard-Leon, et al. 2009 Inactivation of TIF1gamma cooperates with Kras to induce cystic tumors of the pancreas PLoS Genet 5 e1000575 19629168 10.1371/journal.pgen.1000575
62. B Herquel K Ouararhni K Khetchoumian M Ignat M Teletin M Mark G Bechade A Van Dorsselaer S Sanglier-Cianferani A Hamiche, et al. 2011 Transcription cofactors TRIM24, TRIM28, and TRIM33 associate to form regulatory complexes that suppress murine hepatocellular carcinoma Proc Natl Acad Sci U S A 108 8212 8217 21531907 10.1073/pnas.1101544108 1:CAS:528:DC%2BC3MXmsF2jsLc%3D
63. R Aucagne N Droin J Paggetti B Lagrange A Largeot A Hammann A Bataille L Martin KP Yan P Fenaux, et al. 2011 Transcription intermediary factor 1gamma is a tumor suppressor in mouse and human chronic myelomonocytic leukemia J Clin Invest 121 2361 2370 21537084 10.1172/JCI45213 1:CAS:528:DC%2BC3MXnsVaitr0%3D
64. EM Tan 1989 Do autoantibodies inhibit function of their cognate antigens in vivo? Arthritis Rheum 32 924 925 2751724 10.1002/anr.1780320429 1:STN:280:DyaL1Mzit1Chsg%3D%3D