Thyroid Hormone Receptor α Mutation Causes a Severe and Thyroxine-Resistant Skeletal Dysplasia in Female Mice
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A new genetic disorder has been identified that results from mutation of THRA, encoding thyroid hormone receptor α1 (TRα1). Affected children have a high serum T3:T4 ratio and variable degrees of intellectual deficit and constipation but exhibit a consistently severe skeletal dysplasia. In an attempt to improve developmental delay and alleviate symptoms of hypothyroidism, patients are receiving varying doses and durations of T4 treatment, but responses have been inconsistent so far. Thra1PV/+ mice express a similar potent dominant-negative mutant TRα1 to affected individuals, and thus represent an excellent disease model. We hypothesized that Thra1PV/+ mice could be used to predict the skeletal outcome of human THRA mutations and determine whether prolonged treatment with a supraphysiological dose of T4 ameliorates the skeletal abnormalities. Adult female Thra1PV/+ mice had short stature, grossly abnormal bone morphology but normal bone strength despite high bone mass. Although T4 treatment suppressed TSH secretion, it had no effect on skeletal maturation, linear growth, or bone mineralization, thus demonstrating profound tissue resistance to thyroid hormone. Despite this, prolonged T4 treatment abnormally increased bone stiffness and strength, suggesting the potential for detrimental consequences in the long term. Our studies establish that TRα1 has an essential role in the developing and adult skeleton and predict that patients with different THRA mutations will display variable responses to T4 treatment, which depend on the severity of the causative mutation.
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Together, the reports define a new genetic disorder, RTHα, characterized by profound and consistent developmental abnormalities of the skeleton that recapitulate findings in mice with dominant-negative Thra mutations.
“Together, these reports define a new genetic disorder, RTHα, characterized by profound and consistent developmental abnormalities of the skeleton that recapitulate findings in mice with dominant-negative Thra mutations [80–85].”
From Thyroid diseases and bone health (2018) · cites this paper as [80]
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TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone
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Self-citationAnalysis of Physiological Responses to Thyroid Hormones and Their Receptors in Bone
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Self-citationThyroid Hormone Signaling in the Development of the Endochondral Skeleton
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Generation of Novel Genetic Models to Dissect Resistance to Thyroid Hormone Receptor α in Zebrafish
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Self-citationThe Influence of Thyroid Hormone on Growth Hormone Secretion and Action
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NCOR1 modulates erythroid disorders caused by mutations of thyroid hormone receptor α1
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Self-citationMorphological and Functional Colonic Defects Caused by a Mutated Thyroid Hormone Receptor α
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Self-citationSkeletal Effects of Thyroid Hormones
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Thyroid Hormone Nuclear Receptors and Molecular Actions
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REMODELING OF THE BONE TISSUE OF RATS OF DIFFERENT LINES AFTER MELATONIN EFFECT
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Thyroid hormone, thyroid medication, and the skeleton
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- Authors
- Bassett, J. H. D., Boyde, A., Zikmund, T., Evans, H., Croucher, P. I., Zhu, X., Park, J. W., Cheng, S.-Y., & Williams, G. R.
- Affiliations
- Imperial College London (GB)
- Queen Mary University of London (GB)
- Laboratory of X-Ray Micro-Computed Tomography and Nano-Computed Tomography (T.Z.), Central European Institute of Technology, Brno University of Technology CZ-61600 Brno, Czech Republic
- University of Sheffield (GB)
- Garvan Institute of Medical Research (AU)
- National Institutes of Health (US)
- Corresponding author
- Cheng, Sheue-yann
- Williams, Graham R.
- ORCID
- Venue
- Endocrinology
- Publisher
- The Endocrine Society
- Published
- 2014-09-01
- Volume
- 155
- Issue
- 9
- Pages
- 3699-3712
- ISSN
- 0013-7227 (ISSN-L)
- 1945-7170
- PMC
- PMC4138578
- OpenAlex
- W2003839113
- Cited by
- 50
- References
- 60
- Citations by year
- 2026: 1 · 2025: 1 · 2023: 2 · 2022: 2 · 2021: 5 · 2020: 7 · 2019: 3 · 2018: 6 · 2017: 10 · 2016: 8 · 2015: 4 · 2014: 1
- FWCI
- 6.17
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Endocrinology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Australian National University
- National Institutes of Health
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Growth Hormone and Insulin-like Growth Factors
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- thyroid hormone receptor alpha, skeletal dysplasia, dominant-negative mutant, bone stiffness, bone strength, bone mineralization, short stature, TSH secretion, intellectual deficit, hypothyroidism, disease models
- MeSH terms
- Animals, Bone Diseases, Developmental, Calcification, Physiologic, Female, Humans, Male, Mice, Inbred C57BL, Mice, Transgenic, Mutation, Thyroxine, Bone Density, Thyroid Hormone Receptors alpha, Body Size, Mice
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