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Thyrotropin receptor mutations in hyperfunctioning thyroid adenomas from Brazil.

C R Nogueira1, P Kopp, O K Arseven

  • 1Division of Endocrinology, University of São Paulo Medical School, Brazil.

Thyroid : Official Journal of the American Thyroid Association
|December 14, 1999
PubMed
Summary
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Activating mutations in the thyrotropin (TSH) receptor are common in Brazilian toxic adenomas, occurring in 86% of cases. These genetic changes drive hyperthyroidism, similar to findings in regions with low iodine intake.

Area of Science:

  • Endocrinology
  • Molecular Biology
  • Genetics

Background:

  • Hyperfunctioning thyroid adenomas are often caused by activating mutations in the thyrotropin (TSH) receptor.
  • A smaller proportion result from mutations in the Gsalpha gene affecting the adenylyl cyclase pathway.

Purpose of the Study:

  • To investigate the prevalence of TSH receptor and Gsalpha gene mutations in hyperfunctioning thyroid adenomas from Brazilian patients.
  • To correlate mutation findings with geographical iodine intake patterns.

Main Methods:

  • DNA analysis of adenomatous and periadenomatous tissue from seven Brazilian patients with solitary autonomous thyroid adenomas.
  • PCR amplification and direct sequencing of key exons in the TSH receptor and Gsalpha genes.

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Main Results:

  • Six out of seven adenomas (approximately 86%) showed heterozygous, activating mutations in the TSH receptor gene.
  • Identified mutations included D619G, A623V in the third intracellular loop, and D633Y in the sixth transmembrane domain.
  • A potential polymorphic variant D727E did not alter cAMP activity.

Conclusions:

  • Activating TSH receptor mutations are highly prevalent in toxic adenomas in this Brazilian cohort.
  • Findings align with studies from areas of marginal iodine intake, suggesting an environmental influence.
  • Contrasts with lower prevalence in iodine-sufficient regions.