Shared Sporadic and Somatic Thyrotropin Receptor Mutations Display More Active in Vitro Activities than Familial Thyrotropin Receptor Mutations

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dc.authorid0000-0001-5291-8620
dc.authorid0000-0002-4732-2934
dc.authorscopusid29067965900
dc.authorscopusid57195256086
dc.authorscopusid9275130900
dc.authorscopusid15070736900
dc.authorscopusid8416126500
dc.authorscopusid16241650400
dc.authorscopusid35190979600
dc.authorwosidBircan, Rıfat/A-7344-2018
dc.contributor.authorLueblinghoff, Julia
dc.contributor.authorEszlinger, Markus
dc.contributor.authorJaeschke, Holger
dc.contributor.authorMueller, Sandra
dc.contributor.authorBircan, Rifat
dc.contributor.authorGözü, Hülya İliksu
dc.contributor.authorPaschke, Ralf
dc.date.accessioned2022-05-11T14:28:28Z
dc.date.available2022-05-11T14:28:28Z
dc.date.issued2011
dc.departmentFakülteler, Fen Edebiyat Fakültesi, Biyoloji Bölümü
dc.description.abstractBackground: Germline thyrotropin receptor (TSHR) mutations are associated with sporadic congenital nonautoimmune hyperthyroidism and familial nonautoimmune hyperthyroidism. Somatic TSHR mutations are associated with toxic thyroid nodules (TTNs). The objective of the study was to define a relation of the clinical appearance and the in vitro activity (IVA) of the TSHR mutations described by several authors for these thyroid disorders. Methods: We analyzed the IVAs published as linear regression analysis (LRA) of the constitutive activity as a function of the TSHR expression and the basal cyclic adenosine monophosphate (cAMP) values to determine differences between exclusively somatic, exclusively familial, and shared sporadic and somatic TSHR-mutations. Further, we investigated correlations of the LRAs/basal cAMP values with clinical activity characteristics (CACs) of TTNs, such as largest diameter of the TTN and the age of the patient at thyroid surgery. Results: Shared sporadic and somatic mutations showed higher median LRA (14.5) and higher median basal cAMP values (fivefold) than exclusively familial mutations (6.1, p = 0.0002; 2.9-fold, p < 0.0001, respectively). Moreover, mutations shared between sporadic congenital nonautoimmune hyperthyroidism and toxic thyroid nodules (TTNs) showed higher median LRA/basal cAMP values (p < 0.0001) than exclusively somatic mutations in TTNs (5.1; 3.89-fold, respectively). Exclusively somatic mutations and exclusively familial mutations showed no significant difference in their median LRA values (p - 0.786) but a significant difference for basal cAMP values (p - 0.0006). The two examined CACs showed no correlation with the IVA characterized by LRA/basal cAMP values or with the presence or absence of a TSHR-mutation. Conclusions: This systematic analysis of published constitutively activating TSHR-mutations, their CACs, and their IVA provides evidence for higher IVA of shared sporadic and somatic TSHR mutations as compared with familial TSHR mutations. CACs of somatic TSHR mutations in TTNs did not have a clear association with the IVA as characterized by LRA or basal cAMP values.
dc.description.sponsorshipDFGGerman Research Foundation (DFG)European Commission [Pa 423/14-1, Pa 423/15-2, Ja 927/1-1]
dc.description.sponsorshipWe thank H. Berger (Institute of Medical Statistics, University of Leipzig, Leipzig, Germany) for help with the statistical analysis. This research was funded by DFG grants Pa 423/14-1, Pa 423/15-2, and and Ja 927/1-1.
dc.identifier.doi10.1089/thy.2010.0312
dc.identifier.endpage229
dc.identifier.issn1050-7256
dc.identifier.issn1557-9077
dc.identifier.issue3en_US
dc.identifier.pmid21190443
dc.identifier.scopus2-s2.0-79952424398
dc.identifier.scopusqualityQ1
dc.identifier.startpage221
dc.identifier.urihttps://doi.org/10.1089/thy.2010.0312
dc.identifier.urihttps://hdl.handle.net/20.500.11776/6837
dc.identifier.volume21
dc.identifier.wosWOS:000288021200003
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorBircan, Rifat
dc.language.isoen
dc.publisherMary Ann Liebert, Inc
dc.relation.ispartofThyroid
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectNon-Autoimmune Hyperthyroidism
dc.subjectThyroid Hyperfunctioning Adenomas
dc.subjectTerm-Follow-Up
dc.subjectHereditary Nonautoimmune Hyperthyroidism
dc.subjectAutosomal-Dominant Hyperthyroidism
dc.subjectActivating Germline Mutation
dc.subjectStimulating Hormone-Receptor
dc.subjectToxic Multinodular Goiter
dc.subjectIodine-Deficient Area
dc.subjectTsh Receptor
dc.titleShared Sporadic and Somatic Thyrotropin Receptor Mutations Display More Active in Vitro Activities than Familial Thyrotropin Receptor Mutations
dc.typeArticle

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