Similar prevalence of somatic TSH receptor and Gs alpha mutations in toxic thyroid nodules in geographical regions with different iodine supply in Turkey
| Autor: | Knut Krohn, Haluk Sargin, Dilek Yavuzer, Beyazit Cirakoglu, Selahattin Vural, Ralf Paschke, Sandra Müller, Mehmet Sargin, Hulya Iliksu Gozu, Rifat Bircan, Cem Gezen |
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| Přispěvatelé: | Gozu, Hulya Iliksu, Bircan, Rifat, Krohn, Knut, Mueller, Sandra, Vural, Selahattin, Gezen, Cem, Sargin, Haluk, Yavuzer, Dilek, Sargin, Mehmet, Cirakoglu, Beyazit, Paschke, Ralf |
| Jazyk: | angličtina |
| Rok vydání: | 2006 |
| Předmět: |
Male
Turkey endocrine system diseases Somatic cell Endocrinology Diabetes and Metabolism DNA Mutational Analysis POINT MUTATIONS medicine.disease_cause Exon Endocrinology Polymorphism (computer science) GTP-Binding Protein alpha Subunits Gs Prevalence DEFICIENT AREA Thyroid Nodule Polymorphism Single-Stranded Conformational POPULATION Mutation education.field_of_study Geography Receptors Thyrotropin General Medicine Middle Aged Thyrotoxicosis Monoclonal Female Iodine Adult Thyroid nodules endocrine system medicine.medical_specialty Population Biology HYPERFUNCTIONING ADENOMAS ONCOGENIC MUTATIONS Germline mutation Internal medicine medicine Humans education Aged THYROTROPIN RECEPTOR IDENTIFICATION MULTINODULAR GOITERS medicine.disease GENE eye diseases NEEDLE-ASPIRATION BIOPSY |
| Popis: | Objective: Differences in iodine intake could account for the variable prevalences reported for somatic TSH receptor (TSHR) mutations in toxic thyroid nodules (TTNs). However, this question has not been settled, since no study has yet determined the TSHR mutation prevalence in regions with different iodine supplies in the same population using the same methodology. Therefore, we studied the prevalence of somatic TSHR mutations in TTNs from patients living in iodine-deficient or -sufficient regions in Turkey. Design and methods: We screened 74 TTNs for somatic TSHR mutations. Exons 9 and 10 of the TSHR and 7 and 8 of the Gsα were screened by denaturing gradient gel electrophoresis. Determination of X-chromosome inactivation was used for clonality analysis. Results: TSHR mutations were identified in 52 (70.2%) of 74 TTNs. A Gsα mutation was identified in one TTN. Three new TSHR mutations were detected (A627V, I640K, I486N). No significant difference between frequencies of TSHR mutations in iodine deficient/sufficient regions was found. The frequency of non-random X-chromosome inactivation was similar in iodine-sufficient or -deficient regions and in TSHR mutation positive or negative hot nodules. Conclusions: These findings suggest that TTNs in iodine deficient/sufficient areas predominantly arise from aberrant growth of a single cell. Our results suggest that neither the prevalence of TSHR mutations nor that of monoclonal TTNs is related to iodine supply. |
| Databáze: | OpenAIRE |
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