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Updated: Jun 2, 2026

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model

Published on: March 17, 2023

Inherited defects of thyroid hormone metabolism.

A M Dumitrescu¹, S Refetoff

¹Department of Medicine, University of Chicago Medical Center, Chicago, IL, 60637, USA.

Annales D'Endocrinologie

|April 23, 2011

Summary

Genetic defects in selenocysteine insertion sequence binding protein 2 (SBP2) disrupt thyroid hormone metabolism. Mutations in SBP2 cause varying degrees of selenoprotein deficiency, impacting thyroid function and growth.

Area of Science:

Biochemistry
Endocrinology
Genetics

Background:

Thyroid hormone metabolism relies on iodothyronine deiodinases (Ds), which are selenoproteins.
Inherited defects in human deiodinases are unknown, but selenium (Se) and selenoprotein synthesis are crucial.
Selenocysteine insertion sequence binding protein 2 (SBP2) is essential for selenoprotein synthesis.

Purpose of the Study:

To summarize the clinical presentation and molecular consequences of SBP2 gene mutations.
To investigate the impact of SBP2 mutations on selenoprotein synthesis and thyroid hormone metabolism.
To explore the phenotype spectrum associated with SBP2 deficiency.

Main Methods:

Clinical case identification and characterization.
Genetic analysis of SBP2 mutations.

Related Experiment Videos

Last Updated: Jun 2, 2026

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model

Published on: March 17, 2023

In vivo and in vitro studies on SBP2 function and selenoprotein expression.

Main Results:

Identified mutations in the SBP2 gene in families with transient growth retardation and abnormal thyroid function tests.
Demonstrated that SBP2 mutations lead to partial or severe deficiency in selenoprotein synthesis.
Observed a correlation between SBP2 deficiency severity and clinical phenotype, including thyroid hormone levels and growth.

Conclusions:

Mutations in the SBP2 gene are the cause of inherited defects affecting selenoprotein synthesis.
SBP2 deficiency impacts thyroid hormone metabolism and can lead to significant clinical manifestations.
Further research into SBP2 function and selenoprotein biology is warranted.