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

New pathophysiological mechanisms for hyperthyroidism

G Vassart1

  • 1Institut de Recherche Interdisciplinaire, Université Libre de Bruxelles, Belgium. gvassart@ulb.ac.be

Hormone Research
|January 1, 1997
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

Cloning of the TSH receptor: the story from a Brussels perspective.

Annales d'endocrinologie·2011
Same author

Variants of the BMP15 gene in a cohort of patients with premature ovarian failure.

Human reproduction (Oxford, England)·2010
Same author

[Preimplantation genetic diagnosis (PGD): the Erasme Hospital experience].

Revue medicale de Bruxelles·2009
Same author

The specificity of binding of glycoprotein hormones to their receptors.

Cellular and molecular life sciences : CMLS·2008
Same author

TSH Receptor Mutations and Thyroid Disease.

Trends in endocrinology and metabolism: TEM·2008
Same author

Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology.

The Journal of clinical endocrinology and metabolism·2005
Same journal

Abstracts of the LWPES/ESPE 8th Joint Meeting Global Care in Paediatric Endocrinology, in collaboration with APEG, APPES, JSPE and SLEP. New York City, New York, USA. September 9-12, 2009.

Hormone research·2011
Same journal

Abstracts of the 47th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE). Istanbul, Turkey. September 20-23, 2008.

Hormone research·2011
Same journal

Abstracts of the 46th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE). Helsinki, Finland. June 27-30, 2007.

Hormone research·2011
Same journal

Genetic and pathogenetic aspects of Noonan syndrome and related disorders.

Hormone research·2009
Same journal

Response to growth hormone in short children with Noonan syndrome: correlation to genotype.

Hormone research·2009
Same journal

Growth hormone and the heart in Noonan syndrome.

Hormone research·2009
See all related articles

Mutations in the thyroid-stimulating hormone (TSH) receptor can constitutively activate it, leading to hyperthyroidism. This study identified numerous mutations in toxic adenomas and familial hyperthyroidism cases.

Area of Science:

  • Endocrinology
  • Molecular Biology
  • Genetics

Background:

  • Thyroid-stimulating hormone (TSH) receptor activation regulates thyrocyte function, differentiation, and growth via cyclic AMP.
  • Constitutive activation of the TSH receptor can lead to hyperthyroidism.
  • Adrenergic receptor data suggested potential for TSH receptor mutations.

Purpose of the Study:

  • To investigate the hypothesis that mutations in the TSH receptor can lead to its constitutive activation.
  • To identify specific mutations responsible for hyperfunctional benign thyroid tumors and hereditary hyperthyroidism.

Main Methods:

  • Analysis of genetic mutations in 29 hyperfunctioning thyroid adenomas.
  • Genetic analysis of five families with autosomal dominant hyperthyroidism and one sporadic case.

Related Experiment Videos

Main Results:

  • 23 out of 29 hyperfunctioning adenomas harbored mutations in the TSH receptor.
  • Five distinct mutations were identified in familial and sporadic hyperthyroidism cases.
  • A total of 20 different residues were found to be mutated in toxic adenomas and toxic thyroid hyperplasia.

Conclusions:

  • The study confirms that mutations in the TSH receptor can cause constitutive activation, leading to hyperthyroidism.
  • Identified mutations provide insight into the molecular mechanisms of thyroid hyperfunction.
  • The TSH receptor's inherent 'noisy' state may predispose it to activating mutations.