Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Somatic mutations in thyroid nodular disease.

Knut Krohn¹, Ralf Paschke

¹III. Medical Department, University of Leipzig, Philipp-Rosenthal-Strasse 27, D-04103 Leipzig, Germany.

Molecular Genetics and Metabolism

|March 27, 2002

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

Altered Craniofacial and Bone Morphology in Hyperthyroid Knock-In Mice Carrying TSHR D633H and M453T Mutations.

Thyroid : official journal of the American Thyroid Association·2026

Same author

Culture-specific transcriptional drifts limit the fidelity of organoid infection models.

PLoS pathogens·2026

Same author

<i>Trans</i>-eQTLs reveal the architecture of human gene regulatory networks.

medRxiv : the preprint server for health sciences·2026

Same author

Outcomes of Patients with <i>RAS</i>-Positive Bethesda III and IV Cytology Thyroid Nodules.

Thyroid : official journal of the American Thyroid Association·2026

Same author

Impact of reflexive preoperative molecular testing for indeterminate nodules on lobectomy and completion thyroidectomy rates.

European thyroid journal·2026

Same author

Exploring an Aptamer-Based Approach to Assess Canine Parvovirus Integrity After Disinfection Treatment.

Viruses·2025

Same journal

Participants with long-chain 3-hydroxy-acylCoA dehydrogenase deficiency (LCHADD)/trifunctional protein deficiency (TFPD) report consistent low-fat diet intake over time.

Molecular genetics and metabolism·2026

Same journal

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Molecular genetics and metabolism·2026

Same journal

Driving treatment for females with X-linked adrenoleukodystrophy.

Molecular genetics and metabolism·2026

Same journal

High dietary fat causes muscle structural breakdown, mitochondrial dysfunction, and contractile deficits in the absence of carnitine palmitoyltransferase 2.

Molecular genetics and metabolism·2026

Same journal

Ketogenic diet therapy in pyruvate dehydrogenase deficiency: Global clinical practice from literature and survey data.

Molecular genetics and metabolism·2026

Same journal

Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study.

Molecular genetics and metabolism·2026

See all related articles

Iodine deficiency contributes to thyroid nodules and autonomy. Somatic mutations in TSH receptor and Gsalpha genes are key drivers in hot thyroid nodules, while other mutations likely cause cold nodules.

Area of Science:

Endocrinology
Molecular Biology
Genetics

Background:

Thyroid nodules are common, especially in iodine-deficient regions, and classified as hot or cold based on scintigraphy.
Somatic mutations in the TSH receptor gene are frequently found in hot thyroid nodules.
Iodine deficiency may also contribute to thyroid autonomy and nodule development.

Purpose of the Study:

To investigate the frequency of somatic TSH receptor and Gsalpha mutations in hot thyroid nodules.
To explore the potential role of other somatic mutations in the development of cold thyroid nodules.
To understand the link between iodine deficiency, thyroid autonomy, and nodule formation.

Main Methods:

Screening of 75 hot thyroid nodules for somatic TSH receptor mutations using the sensitive DGGE method.

Related Experiment Videos

Analysis of Gsalpha mutations in hot thyroid nodules.

Assessment of X-chromosome inactivation to determine monoclonal origin in mutation-negative nodules.

Main Results:

Somatic TSH receptor mutations were found in 57% of hot thyroid nodules, and Gsalpha mutations in 3%.
50% of mutation-negative nodules from female patients were of monoclonal origin, suggesting other mutations.
Somatic TSH receptor mutations were identified in microscopic autonomous areas of euthyroid goiters.

Conclusions:

Constitutively activating somatic TSH receptor mutations are likely initiating foci for toxic thyroid nodules in iodine-deficient goiters.
Iodine deficiency contributes to both euthyroid goiters and thyroid autonomy.
While TSH receptor and Gsalpha mutations are implicated in hot nodules, other somatic mutations are likely involved in cold thyroid nodule development.