Endocrine Abstracts

Background: It is currently present in the literature that mitochondrial DNA (mtDNA) defects are associated with a great number of diseases including cancers. The role of mitochondrial DNA (mtDNA) mutations/variations in the development of thyroid cancers is a highly controversial topic. In this study, we aimed to investigate the role of mt-DNA control region (CR) variations in thyroid tumor occurrence and the influence of mtDNA haplogroups on susceptibility t...

Constitutive activation of the cAMP pathway by activating TSHR mutation stimulates both thyrocyte proliferation and function. Thus they lead to formation of toxic thyroid nodules (TTNs) and ultimately hyperthyroidism. The in vitro activity of the various TSH-receptor mutation varies from 2–7 fold cAMP increase over the wild type TSH receptor. One previous study invrestigated a possible genotype to phenotype relation in TTNs with somatic TSHR mutation with a negativ...

Objective: 21 different activating germline mutations have been identified up to date. We describe a large euthyroid family with a new TSH-receptor(TSHR) germline mutation where the hyperthyroid index patient also carries a somatic TSHR mutation.Method: Mutation analysis of the exon 9 and 10 of the TSHR gene from the peripheral blood samples of the members of this family and toxic thyroid nodules of the index patient were performed by denaturing gradient...

Objective: Differences in iodine intake could account for the variable prevalences reported for somatic TSHR and Gs alpha mutations in TTNs. However, this question has never been setteled, since no study has yet determined the TSHR mutation prevalence in TTNs in regions with and without iodine deficiency in the same population. Therefore we studied the prevalence of somatic TSHR mutations in TTNs by investigating TTNs from patients who lived in endemic and nonendemic goiter re...

Introduction: BRAF V600E substitution is one of the most common mutation in PTC in different populations, and is associated with poor prognosis of the classical variant of PTC (CVPTC) such as extrathyroidal expansion, vascular invasion, lymph node metastasis and recurrence of the disease. The purpose of this study is to determine the prevalence of BRAF V600E mutation in subcell- types of the PTCs in Turkish population.Materials and methods: A total of 19...