ArticleJournal of endocrinological investigation2012
Pathogenic mechanism of mutations in the thyroid hormone receptor β gene.
Article in Journal of endocrinological investigation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Audiological alterations in resistance to thyroid hormone syndrome: emphasizing lifelong assessment.Archives of endocrinology and metabolism · 2025Article
- Challenging diagnosis of resistance to thyroid hormone in a patient with pituitary adenoma.BMJ case reports · 2019Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundResistance to thyroid hormone (RTH) is characterized by a variable degree of reduced tissue sensitivity to thyroid hormone (TH). It is usually caused by mutations in the TH receptor-β (TRβ) gene.
aimsTo characterize clinical and molecular features of a Thai patient with RTH. Functional significance of the identified mutation as well as other uncharacterized TRβ mutations was also investigated. MATERIALS AND
methodsExons 3-10 of the TRβ gene were assessed by PCR-sequencing. Functional characterization of the mutant TRβ was determined by the luciferase reporter system.
resultsA mutation in exon 9 of the TRβ gene resulting in a methionine to threonine substitution at codon 313 was identified. The functional consequence of this mutation and other uncharacterized known mutations (p.I276L, p.I280S, p.L330S, p.G344A, p.M442T) was evaluated by transfection studies. Four out of 6 had a significant impairment of T3-dependent transactivation. When co-transfected with the wild-type TRβ, all exhibited a dominant negative effect.
conclusionA de novo mutation was identified in the patient with clinical diagnosis of RTH. Our findings provide a strong support that interfering with the T3-mediated transcriptional activation of the wild-type TRβ independent of the ability to activate transcription is a major pathogenic mechanism causing RTH.
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