Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Genetic alterations in thyroid hyperfunctioning adenomas

D Russo1, F Arturi, R Wicker

  • 1Dipartimento di Medicina Sperimentale e Clinica, Facoltà di Farmacia, Università di Reggio Calabria, Catanzaro, Italy.

The Journal of Clinical Endocrinology and Metabolism
|April 1, 1995
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Emerging markers of cancer cachexia and their relationship to sarcopenia.

Journal of cancer research and clinical oncology·2023
Same author

To reflect human autoimmune thyroiditis, thyroid peroxidase (not thyroglobulin) antibodies should be measured in female (not sex-independent) NOD.H2<sup>h4</sup> mice.

Clinical and experimental immunology·2018
Same author

High-level intrathymic thyrotrophin receptor expression in thyroiditis-prone mice protects against the spontaneous generation of pathogenic thyrotrophin receptor autoantibodies.

Clinical and experimental immunology·2017
Same author

Management of febrile neutropaenia: ESMO Clinical Practice Guidelines.

Annals of oncology : official journal of the European Society for Medical Oncology·2016
Same author

Evidence that MHC I-E dampens thyroid autoantibodies and prevents spreading to a second thyroid autoantigen in I-A(k) NOD mice.

Genes and immunity·2015
Same author

2012 European thyroid association guidelines for the management of familial and persistent sporadic non-autoimmune hyperthyroidism caused by thyroid-stimulating hormone receptor germline mutations.

European thyroid journal·2014
Same journal

The Extra X Chromosome and Autoimmune Susceptibility in Klinefelter Syndrome.

The Journal of clinical endocrinology and metabolism·2026
Same journal

Pathophysiology-Based Classification of Male Infertility: Evidence from an 800-patient Prospective Cohort.

The Journal of clinical endocrinology and metabolism·2026
Same journal

Parathyroid Carcinoma: From Molecular Pathogenesis to Multidisciplinary Management.

The Journal of clinical endocrinology and metabolism·2026
Same journal

Genetic and Clinical Factors Associated With Metformin Plasma Concentrations Following an Acute Metformin Challenge.

The Journal of clinical endocrinology and metabolism·2026
Same journal

Continuous glucose monitoring-derived time in range is associated with changes in arterial stiffness in type 2 diabetes.

The Journal of clinical endocrinology and metabolism·2026
Same journal

Association of the Primary Aldosteronism Severity Classification with Lateralization and Treatment Outcomes.

The Journal of clinical endocrinology and metabolism·2026
See all related articles

Mutations in the TSH receptor (TSHR) and G alpha s (gsp) genes were found in thyroid adenomas. These genetic changes may drive tumor growth by constantly activating the cAMP pathway.

Area of Science:

  • Endocrinology
  • Molecular Biology
  • Oncology

Background:

  • Thyroid autonomously hyperfunctioning adenomas are benign tumors characterized by excessive hormone production.
  • The molecular mechanisms underlying thyroid adenoma development, particularly the role of specific gene mutations, require further elucidation.

Purpose of the Study:

  • To investigate the prevalence of mutations in the TSH receptor (TSHR), G alpha s (gsp), and ras genes in thyroid hyperfunctioning adenomas.
  • To determine the functional consequences of identified mutations on cellular signaling pathways, specifically cAMP activation.

Main Methods:

  • Genomic DNA was extracted from 37 thyroid adenomas and adjacent normal tissues.
  • Polymerase chain reaction (PCR) was used to amplify specific gene fragments (TSHR exon 10, gsp exons 8-9, ras genes).

Related Experiment Videos

  • Direct nucleotide sequencing and hybridization with synthetic probes were employed to detect mutations. Functional studies involved transfecting cells with mutated TSHR cDNA to assess cAMP levels.

    • Main Results:

    • A point mutation (Ala623Ser) in the TSHR gene was identified in 3 out of 37 adenomas, confirmed as somatic and heterozygous.
    • This TSHR mutation led to constitutive activation, demonstrated by increased basal cAMP levels in transfected cells.
    • Activating mutations were also found in the gsp gene (9 cases) and the ras gene (1 case). No simultaneous mutations were observed in the studied genes.

    Conclusions:

    • Mutational activation of the TSH receptor (TSHR) and G alpha s (gsp) genes plays a significant role in the tumorigenesis of hyperfunctioning thyroid adenomas.
    • Constitutive activation of the cAMP pathway, driven by these genetic alterations, is a key mechanism in thyroid adenoma development.
    • These findings highlight the importance of specific gene mutations in the pathogenesis of endocrine tumors.