Pathogenesis of thyroid-associated Ophthalmopathy: Does autoimmunity against calsequestrin and collagen XIII play a role?

Clinical Ophthalmology

Volumn 4, Issue 1, 2010, Pages 417-425

  Lahooti, Hooshang ^a   Parmar, Kishan R ^a   Wall, Jack R ^a  

^a UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Autoimmunity; Collagen XIII; T calsequestrin; Thyroid associated ophthalmopathy

Indexed keywords

AUTOANTIBODY; AUTOANTIGEN; CALSEQUESTRIN; COLLAGEN TYPE 13; THYROTROPIN RECEPTOR ANTIBODY; TISSUE ANTIGEN;

ANTIGEN ANTIBODY REACTION; AUTOIMMUNE DISEASE; AUTOIMMUNITY; CELL MEMBRANE; CLINICAL FEATURE; DISEASE CLASSIFICATION; DISEASE COURSE; ENDOCRINE OPHTHALMOPATHY; EXTRAOCULAR MUSCLE; EYELID RETRACTION; FIBROBLAST; GENETIC PREDISPOSITION; GRAVES DISEASE; HASHIMOTO DISEASE; HUMAN; HYPOTHYROIDISM; IMMUNOPATHOGENESIS; MYOPATHY; MYXEDEMA; NONHUMAN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN INTERACTION; REVIEW; RISK FACTOR; SKELETAL MUSCLE; T LYMPHOCYTE; THYROTOXICOSIS; UPREGULATION;

EID: 77953429310     PISSN: 11775467     EISSN: 11775483     Source Type: Book Series    
DOI: None     Document Type: Review

References (50)

1. Nabipour I, Burger A, Moharreri MR, Azizi F. Avicenna, the first to describe thyroid-related orbitopathy. Thyroid. 2009;19(1):7-8.
2. Burch HB, Wartofsky B. Graves' ophthalmopathy: current concepts regarding pathogenesis and management. Endocr Rev. 1993;14(6):747-793.
3. Yamada M, Wu Li A, Wall J. Thyroid-associated ophthalmopathy: clinical features, pathogenesis, and management. Crit Rev Clin Lab Sci. 2000;37(6):523-549.
4. Gopinath B, Adams CL, Musselman R, Tani J, Wall JR. Antibodies against calsequestrin and type XIII collagen are good markers for chronic upper eyelid retraction. Ocul Immunol Inflamm. 2007;15(2):81-88.
5. Gopinath B, Ma G, Wall JR. Eye signs and serum eye muscle and collagen XIII antibodies in patients with transient and progressive thyroiditis. Thyroid. 2007;17(11):1123-1129.
6. Tjiang H, Lahooti H, McCorquodale T, Wall JR. Eye and eyelid abnormalities are common in patients with Hashimoto's thyroiditis. Thyroid. 2010. In Press.
7. Coulter I, Frewin S, Krassas GE, Perros P. Psychological implications of Graves' orbitopathy. Eur J Endocrinol. 2007;157(2):127-131.
8. Della Rocca RC. Thyroid-related orbitopathy: concepts and management. Facial Plast Surg. 2007;23(3):168-173.
9. Busuttil BE, Frauman AG. Extrathyroidal manifestations of Graves' disease: the thyrotropin receptor is expressed in extraocular, but not cardiac, muscle tissues. J Clin Endocrinol Metab. 2001;86(5):2315-2319.
10. Tani J, Wall JR. Autoimmunity against eye-muscle antigens may explain thyroid-associated ophthalmopathy. CMAJ. 2006;175(3):239.
11. Wall JR. Graves' disease is a multi-system autoimmune disorder in which extra ocular muscle damage and connective tissue inflammation are variable features. "In my view". Thyroid. 2002;12:35-36.
12. Bahn RS. Understanding the immunology of Graves' ophthalmopathy. Is it an autoimmune disease? Endocrinol Metab Clin North Am. 2000;29(2):287-296, vi.
13. Bahn RS. TSH receptor expression in orbital tissue and its role in the pathogenesis of Graves' ophthalmopathy. J Endocrinol Invest. 2004;27(3):216-220.
14. Heufelder AE, Dutton CM, Sarka G, Donovan KA, Bahn RS. Detection of TSH receptor RNA in cultured fibroblasts from patients with Graves' ophthalmopathy and pretibial dermopathy. Thyroid. 1993;3(4):297-300.
15. Stadlmayr W, Spitzweg C, Bichlmair AM, Heufelder AE. TSH receptor transcripts and TSH receptor-like immunoreactivity in orbital and pretibial fibroblasts of patients with Graves' ophthalmopathy and pretibial myxedema. Thyroid. 1997;7(1):3-12.
16. Bell A, Gagnon A, Grunder L, Parikh SJ, Smith TJ, Sorisky A. Functional TSH receptor in human abdominal preadipocytes and orbital fibroblasts. Am J Physiol Cell Physiol. 2000;279(2):C335-C340.
17. Wall JR, Bernard N, Boucher A, et al. Pathogenesis of thyroid-associated ophthalmopathy: an autoimmune disorder of the eye muscle associated with Graves' hyperthyroidism and Hashimoto's thyroiditis. Clin Immunol Immunopathol. 1993;68(1):1-8.
18. Kodama K, Sikorska H, Bandy-Dafoe P, Bayly R, Wall JR. Demonstration of a circulating autoantibody against a soluble eye-muscle antigen in Graves' ophthalmopathy. Lancet. 1982;2(8312):1353-1356.
19. Atkinson S, Holcomb M, Kendall-Taylor P. Ophthalmopathic immunoglobulin in patients with Graves' ophthalmopathy. Lancet. 1984;2(8399):374-376.
20. Faryna M, Nauman J, Gardas A. Measurement of autoantibodies against human eye muscle plasma membranes in Graves' ophthalmopathy. Br Med J (Clin Res Ed). 1985;290(6463):191-192.
21. Kahaly G, Moncayo R, Bemetz U, Krause U, Beyer J, Pfeiffer EF. Eye muscle antibodies in endocrine exophthalmos. Clinical and serological observations. Horm Metab Res. 1989;21(3):137-141.
22. Wu YJ, Clarke EM, Shepherd P. Prevalence and significance of antibodies reactive with eye muscle membrane antigens in sera from patients with Graves' ophthalmopathy and other thyroid and non thyroid diseases. Thyroid. 1998;8(2):167-174.
23. Chang TC, Chang TJ, Huang YS, Huang KM, Su RJ, Kao SC. Identification of autoantigen recognized by autoimmune ophthalmopathy sera with immunoblotting correlated with orbital computed tomography. Clin Immunol Immunopathol. 1992;65(2):161-166.
24. Salvi M, Miller A, Wall JR. Human orbital tissue and thyroid membranes express a 64 kDa protein which is recognized by autoantibodies in the serum of patients with thyroid-associated ophthalmopathy. FEBS Lett. 1988;232(1):135-139.
25. Gunji K, De Bellis A, Li AW, et al. Cloning and characterization of the novel thyroid and eye muscle shared protein G2s: autoantibodies against G2s are closely associated with ophthalmopathy in patients with Graves' hyperthyroidism. J Clin Endocrinol Metab. 2000;85(4):1641-1647.
26. Kubota S, Gunji K, Stolarski C, Kennerdell JS, Wall JR. Re evaluation of the prevalences of serum autoantibodies reactive with "64-kd eye muscle proteins" in patients with thyroid-associated ophthalmopathy. Thyroid. 1998;8(2):175-179.
27. Gunji K, Kubota S, Stolarski C, Wengrowicz S, Kennerdell JS, Wall JR. A 63 kDa skeletal muscle protein associated with eye muscle inflammation in Graves' disease is identified as the calcium binding protein calsequestrin. Autoimmunity. 1999;29(1):1-9.
28. Gunji K, De Bellis A, Kubota S, et al. Serum antibodies against the flavoprotein subunit of succinate dehydrogenase are sensitive markers of eye muscle autoimmunity in patients with Graves' hyperthyroidism. J Clin Endocrinol Metab. 1999;84(4):1255-1262.
29. El-Kaissi S, Frauman AG, Wall JR. Thyroid-associated ophthalmopathy: a practical guide to classification, natural history and management. Intern Med J. 2004;34(8):482-491.
30. Kaspar M, Archibald C, Li AW, et al. Eye muscle antibodies and subtype of thyroid-associated ophthalmopathy. Thyroid. 2002;12(3):187-191.
31. Atabay C, Tyutyunikov A, Scalise D, et al. Serum antibodies reactive with eye muscle membrane antigens are detected in patients with non-specific orbital inflammation. Ophthalmology. 1995;102(1): 145-153.
32. Porter JD, Khanna S, Kaminski HJ, et al. Extraocular muscle is defined by a fundamentally distinct gene expression profile. Proc Natl Acad Sci U S A. 2001;98(21):12062-12067.
33. De Bellis A, Sanson D, Coronella C, et al. Serum antibodies to collagen XIII: a further good marker of active Graves' ophthalmopathy. Clin Endocrinol (Oxf). 2005;62(1):24-29.
34. Gopinath B, Musselman R, Beard N, et al. Antibodies targeting the calcium binding skeletal muscle protein calsequestrin are specific markers of ophthalmopathy and sensitive indicators of ocular myopathy in patients with Graves' disease. Clin Exp Immunol. 2006;145(1):56-62.
35. Gopinath B, Musselman R, Adams CL, Tani J, Beard N, Wall JR. Study of serum antibodies against three eye muscle antigens and the connective tissue antigen collagen XIII in patients with Graves' disease with and without ophthalmopathy: correlation with clinical features. Thyroid. 2006;16(10):967-974.
36. Sandberg-Lall M, Hagg PO, Wahlstrom I, Pihlajaniemi T. Type XIII collagen is widely expressed in the adult and developing human eye and accentuated in the ciliary muscle, the optic nerve and the neural retina. Exp Eye Res. 2000;70(4):401-410.
37. Bartalena L, Bogazzi F, Pecori F, Martino E. Graves' disease occurring after subacute thyroiditis: report of a case and review of the literature. Thyroid. 1996;6(4):345-348.
38. Iitaka M, Momotani N, Hisaoka T, et al. TSH receptor antibody-associated thyroid dysfunction following subacute thyroiditis. Clin Endocrinol (Oxf). 1998;48(4):445-453.
39. Amato G, Rotondi N, Salzano I, et al. Extraocular muscle antibodies positivity as the only serum marker of euthyroid Graves' ophthalmopathy following subacute thyroiditis: case report. J Clin Endocrinol Metab. 2000;85(3):950-952.
40. Bednarczuk T, Hiromatsu Y, Inoue Y, Yamamoto K, Wall JR, Nauman J. T-cell-mediated immunity in thyroid-associated ophthalmopathy. Thyroid. 2002;12(3):209-215.
41. Weetman AP, Cohen S, Gatter KC, Fells P, Shine B. Immunohistochemical analysis of the retrobulbar tissues in Graves' ophthalmopathy. Clin Exp Immunol. 1989;75(2):222-227.
42. Forster G, Otto E, Hansen C, Ochs K, Kahaly G. Analysis of orbital T cells in thyroid-associated ophthalmopathy. Clin Exp Immunol. 1998;112(3):427-434.
43. Pappa A, Lawson JM, Calder V, Fells P, Lightman S. T cells and fibroblasts in affected extraocular muscles in early and late thyroid associated ophthalmopathy. Br J Ophthalmol. 2000;84(5):517-522.
44. Nguyen B, Gopinath B, Tani J, Wescombe L, Wall JR. Peripheral blood T lymphocyte sensitisation against calsequestrin and flavoprotein in patients with Graves' ophthalmopathy. Autoimmunity. 2008;41(5):372-376.
45. Bednarczuk T, Gopinath B, Ploski R, Wall JR. Susceptibility genes in Graves' ophthalmopathy: searching for a needle in a haystack? Clin Endocrinol (Oxf). 2007;67(1):3-19.
46. Thornton J, Kelly SP, Harrison RA, Edwards R. Cigarette smoking and thyroid eye disease: a systematic review. Eye. 2007;21(9): 1135-1145.
47. Vestergaard P. Smoking and thyroid disorders - a meta-analysis. Eur J Endocrinol. 2002;146(2):153-161.
48. Wescombe L, Lahooti H, Gopinath B, Wall JR. The cardiac calsequestrin gene (CASQ2) is up-regulated in the thyroid in patients with Graves' ophthalmopathy - support for a role of autoimmunity against calsequestrin as the triggering event. Clin Endocrinol. 2010. In Press.
49. Diehn JJ, Diehn M, Marmor MF, Brown PO. Differential gene expression in anatomical compartments of the human eye. Genome Biol. 2005; 6(9):R74.
50. Gerding MN, van der Meer JW, Broenink M, Bakker O, Wiersinga WM, Prummel M. Association of thyrotrophin receptor antibodies with the clinical features of Graves' ophthalmopathy. Clin Endocrinol (Oxf). 2000;52(3):267-271.