Genetics of autoimmune myasthenia gravis, a model for antibody-mediated autoimmunity in man

Journal of Autoimmunity

Volumn 21, Issue 2, 2003, Pages 105-110

  Garchon, Henri Jean ^a  

^a INSERM   (France)

Author keywords

Autoantibody; Genetics; HLA; Interaction; Myasthenia gravis; Self antigen

Indexed keywords

ANTIBODY; ANTIGEN; CHOLINERGIC RECEPTOR; HLA ANTIGEN CLASS 2;

ANTIBODY TITER; ANTIGEN PRESENTATION; AUTOIMMUNE DISEASE; AUTOIMMUNITY; CHRNA1 GENE; DISEASE MODEL; FAMILIAL DISEASE; GENE; GENE EXPRESSION; GENE LOCUS; GENETIC ANALYSIS; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC LINKAGE; HLA SYSTEM; HUMAN; IMMUNOCOMPETENT CELL; IMMUNOGENETICS; INHERITANCE; MAJOR HISTOCOMPATIBILITY COMPLEX; MYASTHENIA GRAVIS; NEUROMUSCULAR JUNCTION DISORDER; PHENOTYPE; PRIORITY JOURNAL; REVIEW; THYMUS; THYMUS DISEASE; TWINS;

EID: 0042520873     PISSN: 08968411     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0896-8411(03)00095-7     Document Type: Short Survey

References (77)

1. Engel A.G. Myasthenia gravis and myasthenic syndromes. Ann Neurol. 16:(5):1984;519-534.
2. Drachman D.B. Myasthenia gravis. N Engl J Med. 330:1994;1797-1810.
3. Vincent A., Palace J., Hilton-Jones D. Myasthenia gravis. Lancet. 357:2001;2122-2128.
4. Patrick J., Lindstrom J. Autoimmune response to acetylcholine receptor. Science. 180:1973;871-872.
5. Lindstrom J.M., Seybold M.E., Lennon V.A., Whittingham S., Duane D.D. Antibody to acetylcholine receptor in myasthenia gravis. Prevalence, clinical correlates, and diagnostic value. Neurology. 26:1976;1054-1059.
6. Toyka K.V., Brachman D.B., Pestronk A., Kao I. Myasthenia gravis: passive transfer from man to mouse. Science. 190:1975;397-399.
7. Keesey J., Lindstrom J., Cokely H. Anti-acetylcholine receptor antibody in neonatal myasthenia gravis. N Engl J Med. 296:1977;55.
8. Vincent A. Unravelling the pathogenesis of myasthenia gravis. Nat Rev Immunol. 2:2002;797-804.
9. Mossman S., Vincent A., Newsom-Davis J. Myasthenia gravis without acetylcholine-receptor antibody: a distinct disease entity. Lancet. 1:1986;116-119.
10. Hoch W., McConville J., Helms S., Newsom-Davis J., Melms A., Vincent A. Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies. Nat Med. 7:2001;365-368.
11. Engel A.G., Ohno K., Sine S.M. Congenital myasthenic syndromes: progress over the past decade. Muscle Nerve. 27:2003;4-25.
12. Hohlfeld R., Wekerle H. The role of the thymus in myasthenia gravis. Adv Neuroimmunol. 4:1994;373-386.
13. Kao I., Drachman D.B. Thymic muscle cells bear acetylcholine receptors: possible relation to myasthenia gravis. Science. 195:1977;74-75.
14. Derbinski J., Schulte A., Kyewski B., Klein L. Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self. Nat Immunol. 2:2001;1032-1039.
15. Compston D.A., Vincent A., Newsom-Davis J., Batchelor J.R. Clinical, pathological, HLA antigen and immunological evidence for disease heterogeneity in myasthenia gravis. Brain. 103:1980;579-601.
16. Yamamoto A.M., Gajdos P., Eymard B., Tranchant C., Warter J.M., Gomez L., et al. Anti-titin antibodies in myasthenia gravis: tight association with thymoma and heterogeneity of nonthymoma patients. Arch Neurol. 58:2001;885-890.
17. Labeit S., Kolmerer B. Titins: giant proteins in charge of muscle ultrastructure and elasticity. Science. 270:1995;293-296.
18. Gautel M., Lakey A., Barlow D.P., Holmes Z., Scales S., Leonard K., et al. Titin antibodies in myasthenia gravis: identification of a major immunogenic region of titin. Neurology. 43:1993;1581-1585.
19. Aarli J.A., Stefansson K., Marton L.S., Wollmann R.L. Patients with myasthenia gravis and thymoma have in their sera IgG autoantibodies against titin. Clin Exp Immunol. 82:1990;284-288.
20. Namba T., Brunner N.G., Brown S.B., Muguruma M., Grob D. Familial myasthenia gravis. Report of 27 patients in 12 families and review of 164 patients in 73 families. Arch Neurol. 25:1971;49-60.
21. Bundey S. A genetic study of infantile and juvenile myasthenia gravis. J Neurol Neurosurg Psychiatry. 35:1972;41-51.
22. Pirskanen R. Genetic aspects in myasthenia gravis. A family study of 264 Finnish patients. Acta Neurol Scand. 56:1977;365-388.
23. Provenzano C., Arancio O., Evoli A., Rocca B., Bartoccioni E., de Grandis D., et al. Familial autoimmune myasthenia gravis with different pathogenetic antibodies. J Neurol Neurosurg Psychiatry. 51:1988;1228-1230.
24. Szobor A. Myasthenia gravis: familial occurrence. A study of 1100 myasthenia gravis patients. Acta Med Hung. 46:1989;13-21.
25. Allen N., Kissel P., Pietrasiuk D., Perlow M.J. Myasthenia gravis in monozygotic twins. Clinical follow-up nine years after thymectomy. Arch Neurol. 41:1984;994-996.
26. Kerzin-Storrar L., Metcalfe R.A., Dyer P.A., Kowalska G., Ferguson I., Harris R. Genetic factors in myasthenia gravis: a family study. Neurology. 38:1988;38-42.
27. Namba T., Shapiro M.S., Brunner N.G., Grob D. Myasthenia gravis occurring in twins. J Neurol Neurosurg Psychiatry. 34:1971;531-534.
28. Murphy J., Murphy S.F. Myasthenia gravis in identical twins. Neurology. 36:1986;78-80.
29. Pascuzzi R.M., Phillips L.H. 2nd, Johns T.R., Lennon V.A. The prevalence of electrophysiological and immunological abnormalities in asymptomatic relatives of patients with myasthenia gravis. Ann N Y Acad Sci. 505:1987;407-415.
30. Fritze D., Herrman C.J.R., Naeim F., Smith G.S., Walford R.L. HL-A antigens in myasthenia gravis. Lancet. 1:1974;240-242.
31. Feltkamp T.E., Van Den Berg-Loonen P.M., Nijenhuis L.E., Engelfriet C.P., Van Rossum A.L., Van Loghem J.J., et al. Myasthenia gravis, autoantibodies, and HL-A antigens. Br Med J. 1:1974;131-133.
32. Pirskanen R. Genetic associations between myasthenia gravis and the HL-A system. J Neurol Neurosurg Psychiatry. 39:1976;23-33.
33. Carlsson B., Wallin J., Pirskanen R., Matell G., Smith C.I. Different HLA DR-DQ associations in subgroups of idiopathic myasthenia gravis. Immunogenetics. 31:1990;285-290.
34. Dawkins R.L., Christiansen F.T., Kay P.H., Garlepp M., McCluskey J., Hollingsworth P.N., et al. Disease associations with complotypes, supratypes and haplotypes. Immunol Rev. 70:1983;1-22.
35. Hjelmstrom P., Peacock C.S., Giscombe R., Pirskanen R., Lefvert A.K., Blackwell J.M., et al. Polymorphism in tumor necrosis factor genes associated with myasthenia gravis. J Neuroimmunol. 88:1998;137-143.
36. Price P., Witt C., Allcock R., Sayer D., Garlepp M., Kok C.C., et al. The genetic basis for the association of the 8.1 ancestral haplotype (A1, B8, DR3) with multiple immunopathological diseases. Immunol Rev. 167:1999;257-274.
37. Giraud M., Beaurain G., Yamamoto A.M., Eymard B., Tranchant C., Gajdos P., et al. Linkage of HLA to myasthenia gravis and genetic heterogeneity depending on anti-titin antibodies. Neurology. 57:2001;1555-1560.
38. Spurkland A., Gilhus N.E., Ronningen K.S., Aarli J.A., Vartdal F. Myasthenia gravis patients with thymus hyperplasia and myasthenia gravis patients with thymoma display different HLA associations. Tissue Antigens. 37:1991;90-93.
39. Vieira M.L., Caillat-Zucman S., Gajdos P., Cohen-Kaminsky S., Casteur A., Bach J.F. Identification by genomic typing of non-DR3 HLA class II genes associated with myasthenia gravis. J Neuroimmunol. 47:1993;115-122.
40. Machens A., Loliger C., Pichlmeier U., Emskotter T., Busch C., Izbicki J.R. Correlation of thymic pathology with HLA in myasthenia gravis. Clin Immunol. 91:1999;296-301.
41. Christiansen F.T., Pollack M.S., Garlepp M.J., Dawkins R.L. Myasthenia gravis and HLA antigens in American blacks and other races. J Neuroimmunol. 7:1984;121-129.
42. Hawkins B.R., Ip M.S., Lam K.S., Ma J.T., Wy C.L., Yeung R.T., et al. HLA antigens and acetylcholine receptor antibody in the subclassification of myasthenia gravis in Hong Kong Chinese. J Neurol Neurosurg Psychiatry. 49:1986;316-319.
43. Chiu H.C., Hsieh R.P., Hsieh K.H., Hung T.P. Association of HLA-DRw9 with myasthenia gravis in Chinese. J Immunogenet. 14:1987;203-207.
44. Hawkins B.R., Yu Y.L., Wong V., Woo E., Ip M.S., Dawkins R.L. Possible evidence for a variant of myasthenia gravis based on HLA and acetylcholine receptor antibody in Chinese patients. Q J Med. 70:1989;235-241.
45. Matsuki K., Juji T., Tokunaga K., Takamizawa M., Maeda H., Soda M., et al. HLA antigens in Japanese patients with myasthenia gravis. J Clin Invest. 86:1990;392-399.
46. Degli-Esposti M.A., Andreas A., Christiansen F.T., Schalke B., Albert E., Dawkins R.L. An approach to the localization of the susceptibility genes for generalized myasthenia gravis by mapping recombinant ancestral haplotypes. Immunogenetics. 35:(6):1992;355-364.
47. Janer M., Cowland A., Picard J., Campbell D., Pontarotti P., Newsom-Davis J., et al. A susceptibility region for myasthenia gravis extending into the HLA-class I sector telomeric to HLA-C. Hum Immunol. 60:(9):1999;909-917.
48. Miyazawa A., Fujiyoshi Y., Stowell M., Unwin N. Nicotinic acetylcholine receptor at 4.6 A resolution: transverse tunnels in the channel wall. J Mol Biol. 288:1999;765-786.
49. Corringer P.J., Le Novere N., Changeux J.P. Nicotinic receptors at the amino acid level. Annu Rev Pharmacol Toxicol. 40:2000;431-458.
50. Tzartos S.J., Barkas T., Cung M.T., Mamalaki A., Marraud M., Orlewski P., et al. Anatomy of the antigenic structure of a large membrane autoantigen, the muscle-type nicotinic acetylcholine receptor. Immunol Rev. 163:1998;89-120.
51. Beeson D., Morris A., Vincent A., Newsom-Davis J. The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon. EMBO J. 9:1990;2101-2106.
52. Newland C.F., Beeson D., Vincent A., Newsom-Davis J. Functional and nonfunctional isoforms of the human muscle acetylcholine receptor. J Physiol. 489:1995;767-778.
53. Garchon H.J., Djabiri F., Viard J.P., Gajdos P., Bach J.F. Involvement of human muscle acetylcholine receptor alpha-subunit gene (CHRNA) in susceptibility to myasthenia gravis. Proc Natl Acad Sci U S A. 91:1994;4668-4672.
54. Heckmann J.M., Morrison K.E., Emeryk-Szajewska B., Strugalska H., Bergoffen J., Willcox N., et al. Human muscle acetylcholine receptor alpha-subunit gene (CHRNA1) association with autoimmune myasthenia gravis in black, mixed-ancestry and Caucasian subjects. J Autoimmun. 9:1996;175-180.
55. Watts C. Capture and processing of exogenous antigens for presentation on MHC molecules. Annu Rev Immunol. 15:1997;821-850.
56. Wucherpfennig K.W. Insights into autoimmunity gained from structural analysis of MHC-peptide complexes. Curr Opin Immunol. 13:2001;650-656.
57. Djabiri F., Caillat-Zucman S., Gajdos P., Jais J.P., Gomez L., Khalil I., et al. Association of the AChRalpha-subunit gene (CHRNA), DQA1*0101, and the DR3 haplotype in myasthenia gravis. Evidence for a three-gene disease model in a subgroup of patients. J Autoimmun. 10:1997;407-413.
58. Nakao Y., Matsumoto H., Miyazaki T., Nishitani H., Ota K., Fujita T., et al. Gm allotypes in myasthenia gravis. Lancet. 1:1980;677-680.
59. Smith C.I., Grubb R., Hammarstrom L., Matell G. Gm allotypes in Swedish myasthenia gravis patients. J Immunogenet. 10:1983;1-9.
60. Smith C.I., Grubb R., Hammarstrom L., Pirskanen R. Gm allotypes in Finnish myasthenia gravis patients. Neurology. 34:1984;1604-1605.
61. Chiu H.C., de Lange G.G., Willcox N., Vincent A., Newsom-Davis J., Hsieh K.H., et al. Immunoglobulin allotypes in caucasian andChinese myasthenia gravis: differences from Japanese patients. J Neurol Neurosurg Psychiatry. 51:1988;214-217.
62. Gilhus N.E., Pandey J.P., Gaarder P.I., Aarli J.A. Immunoglobulin allotypes in myasthenia gravis patients with a thymoma. J Autoimmun. 3:1990;299-305.
63. Demaine A., Willcox N., Janer M., Welsh K., Newsom-Davis J. Immunoglobulin heavy chain gene associations in myasthenia gravis: new evidence for disease heterogeneity. J Neurol. 239:1992;53-56.
64. Dondi E., Gajdos P., Bach J.F., Garchon H.J. Association of Km3 allotype with increased serum levels of autoantibodies against muscle acetylcholine receptor in myasthenia gravis. J Neuroimmunol. 51:1994;221-224.
65. Oksenberg J.R., Gaiser C.N., Cavalli-Sforza L.L., Steinman L. Polymorphic markers of human T-cell receptor alpha and beta genes. Family studies and comparison of frequencies in healthy individuals and patients with multiple sclerosis and myasthenia gravis. Hum Immunol. 22:1988;111-121.
66. Oksenberg J.R., Sherritt M., Begovich A.B., Erlich H.A., Bernard C.C., Cavalli-Sforza L.L., et al. T-cell receptor V alpha and C alpha alleles associated with multiple and myasthenia gravis. Proc Natl Acad Sci U S A. 86:1989;988-992.
67. Mantegazza R., Oksenberg J.R., Baggi F., Antozzi C., Illeni M.T., Pellegris G., et al. Increased incidence of certain TCR and HLA genes associated with myasthenia gravis in Italians. J Autoimmun. 3:1990;431-440.
68. Djabiri F., Gajdos P., Eymard B., Gomez L., Bach J.F., Garchon H.J. No evidence for an association of AChR beta-subunit gene (CHRNB1) with myasthenia gravis. J Neuroimmunol. 78:1997;86-89.
69. Huang D., Xia S., Zhou Y., Pirskanen R., Liu L., Lefvert A.K. No evidence for interleukin-4 gene conferring susceptibility to myasthenia gravis. J Neuroimmunol. 92:1998;208-211.
70. Huang D., Pirskanen R., Hjelmstrom P., Lefvert A.K. Polymorphisms in IL-1beta and IL-1 receptor antagonist genes are associated with myasthenia gravis. J Neuroimmunol. 81:1998;76-81.
71. Huang D.R., Zhou Y.H., Xia S.Q., Liu L., Pirskanen R., Lefvert A.K. Markers in the promoter region of interleukin-10 (IL-10) gene in myasthenia gravis: implications of diverse effects of IL-10 in the pathogenesis of the disease. J Neuroimmunol. 94:1999;82-87.
72. Huang D., Zheng C., Giscombe R., Matell G., Pirskanen R., Lefvert A.K. Polymorphisms at -174 and in the 3′ flanking regionof interleukin-6 (IL-6) gene in patients with myasthenia gravis. J Neuroimmunol. 101:1999;197-200.
73. Xu B.Y., Huang D., Pirskanen R., Lefvert A.K. beta2-adrenergic receptor gene polymorphisms in myasthenia gravis (MG). Clin Exp Immunol. 119:2000;156-160.
74. Huang D., Liu L., Noren K., Xia S.Q., Trifunovic J., Pirskanen R., et al. Genetic association of Ctla-4 to myasthenia gravis with thymoma. J Neuroimmunol. 88:1998;192-198.
75. Huang D., Giscombe R., Zhou Y., Pirskanen R., Lefvert A.K. Dinucleotide repeat expansion in the CTLA-4 gene leads to T cell hyper-reactivity via the CD28 pathway in myasthenia gravis. J Neuroimmunol. 105:2000;69-77.
76. Wang X.B., Kakoulidou M., Qiu Q., Giscombe R., Huang D., Pirskanen R., et al. CDS1 and promoter single nucleotide polymorphisms of the CTLA-4 gene in human myasthenia gravis. Genes Immun. 3:2002;46-49.
77. Wang X.B., Kakoulidou M., Giscombe R., Qiu Q., Huang D., Pirskanen R., et al. Abnormal expression of CTLA-4 by T cells from patients with myasthenia gravis: effect of an AT-rich gene sequence. J Neuroimmunol. 130:2002;224-232.