Lack of mutations in the TSHr and Gsα genes in TSHr antibody negative Graves' disease

Experimental and Clinical Endocrinology and Diabetes

Volumn 113, Issue 9, 2005, Pages 516-521

  Elgadi, Aziz ^a   Frisk, T ^a   Larsson, C ^a   Wallin, G ^a   Hoog A ^a   Zedenius, J ^a   Norgren, S ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Thyroid function; Thyroid stimulating hormone (TSH); Thyroid stimulating hormone receptor (TSHr); Thyroid stimulating antibody; Thyroxine (t4)

Indexed keywords

STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; THYROTROPIN; THYROTROPIN RECEPTOR; THYROTROPIN RECEPTOR ANTIBODY;

ARTICLE; CLINICAL ARTICLE; GENE MUTATION; GENETIC POLYMORPHISM; GRAVES DISEASE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SOMATIC MUTATION; THYROID ADENOMA; THYROID FUNCTION; THYROID NODULE; TOXIC GOITER;

ADENOMA; ADULT; AGED; AUTOANTIBODIES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GOITER, NODULAR; GRAVES DISEASE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, GENETIC; RECEPTORS, THYROTROPIN; SIGNAL TRANSDUCTION; THYROID NEOPLASMS;

EID: 27744548235     PISSN: 09477349     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2005-872887     Document Type: Article

References (31)

1. Bahn RS, Dutton CM, Heufelder AE, Sarkar G. A genomic point mutation in the extracellular domain of the thyrotropin receptor in patients with Graves' ophthalmopathy. J Clin Endocrinol Metab 1994; 78: 256-260
2. Ban Y, Greenberg DA, Concepcion ES, Tomer Y. A germline single nucleotide polymorphism at the intracellular domain of the human thyrotropin receptor does not have a major effect on the development of Graves'disease. Thyroid 2002; 12: 1079-1083
3. Bohr UR, Behr M, Loos U. A heritable point mutation in an extracellular domain of the TSH receptor involved in the interaction with Graves' immunoglobulins. Biochim Biophys Acta 1993; 1216: 504-508
4. Chistiakov DA. Thyroid-stimulating hormone receptor and its role in Graves' disease. Mol Genet Metab 2003; 80: 377-388
5. Chistiakov DA, Savost'anov KV, Turakulov RI, Petunina N, Balabolkin MI, Nosikov W. Further studies of genetic susceptibility to Graves' disease in a Russian population. Med Sci Monit 2002; 8: CR180-184.
6. Costagliola S, Morgenthaler NG, Hoermann R, Badenhoop K, Struck J, Freitag D, Poertl S, Weglohner W, Hollidt JM, Quadbeck B, Dumont JE, Schumm-Draeger PM, Bergmann A, Mann K, Vassart G, Usadel KH. Second generation assay for thyrotropin receptor antibodies has superior diagnostic sensitivity for Graves' disease. J Clin Endocrinol Metabl999; 84: 90-97
7. Couet J, Sar S, Jolivet A, Hai MT, Milgrom E, Misrahi M. Shedding of human thyrotropin receptor ectodomain. Involvement of a matrix metalloprotease. J Biol Chem 1996; 271: 4545-4552
8. Cuddihy RM, Bryant WP, Bahn RS. Normal function in vivo of a homozygotic polymorphism in the human thyrotropin receptor. Thyroid 1995a; 5: 255-257
9. Cuddihy RM, Dutton CM, Bahn RS. A polymorphism in the extracellular domain of the thyrotropin receptor is highly associated with autoimmune thyroid disease in females. Thyroid 1995b; 5: 89-95
10. de Roux N, Misrahi M, Chatelain N, Gross B, Milgrom E. Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene. Mol Cell Endocrinol 1996; 117: 253-256
11. Derwahl M, Harnacher C, Russo D, Broecker M, Manole D, Schatz H, Kopp P, Filetti S. Constitutive activation of the Gs alpha protein-adenylate cyclase pathway may not be sufficient to generate toxic thyroid adenomas. J Clin Endocrinol Metab 1996; 81: 1898-1904
12. Dumont JE, Lamy F, Roger P, Maenhaut C. Physiological and pathological regulation of thyroid cell proliferation and differentiation by thyrotropin and other factors. Physiol Rev 1992; 72: 667-697
13. Duprez L, Parma J, Van Sande J, Allgeier A, Leclere J, Schvartz C, Delisle MJ, Decoulx M, Orgiazzi J, Dumont J, Vassart G. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat Genet 1994; 7: 396-401
14. Fuhrer D, Holzapfel HP, Wonerow P, Scherbaum WA, Paschke R. Somatic mutations in the thyrotropin receptor gene and not in the Gs alpha protein gene in 31 toxic thyroid nodules. J Clin Endocrinol Metab 1997; 82: 3885-3891
15. Gustavsson B, Eklof C, Westermark K, Westermark B, Heldin NE. Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease. Mol Cell Endocrinol 1995; 111 : 167-173
16. Ho SC, Goh SS, Khoo DH. Association of Graves' disease with intragenic polymorphism of the thyrotropin receptor gene in a cohort of Singapore patients of multi-ethnic origins. Thyroid 2003; 13: 523-528
17. Loos U, Hagner S, Bohr UR, Bogatkewitsch GS, Jakobs KH, Van Koppen CJ. Enhanced cAMP accumulation by the human thyrotropin receptor variant with the Pro52Thr substitution in the extracellular domain. Eur J Biochem 1995; 232: 62-65
18. Lyons J, Landis CA, Harsh G, Vallar L, Grunewald K, Feichtinger H, Duh QY, Clark OH, Kawasaki E, Bourne HR et al. Two G protein oncogenes in human endocrine tumors. Science 1990; 249: 655-659
19. Nagayama Y, Rapoport B. The thyrotropin receptor 25 years after its discovery: new insight after its molecular cloning. Mol Endocrinol 1992; 6: 145-156
20. O'Sullivan C, Barton CM, Staddon SL, Brown CL, Lemoine NR. Activating point mutations of the gsp oncogene in human thyroid adenomas. Mol Carcinog 1991; 4: 345-349
21. Parma J, Duprez L, Van Sande J, Cochaux P, Gervy C, Mockel J, Dumont J, Vassart G. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 1993; 365: 649-651
22. Parma J, Duprez L, Van Sande J, Hermans J, Rocmans P, Van Vliet G, Costagliola S, Rodien P, Dumont JE, Vassart G. Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas. J Clin Endocrinol Metab 1997; 82: 2695-2701
23. Parma J, Van Sande J, Swillens S, Tonacchera M, Dumont J, Vassart G. Somatic mutations causing constitutive activity of the thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: identification of additional mutations activating both the cyclic adenosine 3′,5′- monophosphate and inositol phosphate-Ca2+ cascades. Mol Endocrinol 1995; 9: 725-733
24. Pedersen IB, Knudsen N, Perrild H, Ovesen L, Laurberg P. TSH-receptor antibody measurement for differentiation of hyperthyroidism into Graves' disease and multinodular toxic goitre: a comparison of two competitive binding assays. Clin Endocrinol (Oxf) 2001; 55: 381-390
25. Porcellini A, Ciullo I, Laviola L, Amabile G, Fenzi G, Avvedimento VE. Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy. J Clin Endocrinol Metab 1994; 79: 657-661
26. Rees Smith B, McLachlan SM, Furmaniak J. Autoantibodies to the thyrotropin receptor. Endocr Rev 1988; 9: 106-121
27. Russo D, Arturi F, Suarez HG, Schlumberger M, Du Villard JA, Crocetti U, Filetti S. Thyrotropin receptor gene alterations in thyroid hyperfunctioning adenomas. J Clin Endocrinol Metab 1996; 81: 1548-1551
28. Tonacchera M, Agretti P, Chiovato L, Rosellini V, Ceccarini G, Perri A, Viacava P, Naccarato AG, Miccoli P, Pinchera A, Vitti P. Activating thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous multinodular goiter. J Clin Endocrinol Metab 2000; 85: 2270-2274
29. Tonacchera M, Chiovato L, Pinchera A, Agretti P, Fiore E, Cetani F, Rocchi R, Viacava P, Miccoli P, Vitti P. Hyperfunctioning thyroid nodules in toxic multinodular goiter share activating thyrotropin receptor mutations with solitary toxic adenoma. J Clin Endocrinol Metab 1998; 83: 492-498
30. Van Sande J, Parma J, Tonacchera M, Swillens S, Dumont J, Vassart G. Somatic and germline mutations of the TSH receptor gene in thyroid diseases. J Clin Endocrinol Metab 1995; 80: 2577-2585
31. Vassart G, Dumont JE. The thyrotropin receptor and the regulation of thyrocyte function and growth. Endocr Rev 1992; 13: 596-611