Anomalous Behavior of Disease-Inflicting Polymorphic Variants of Nuclear Receptor THRβ of Indian Origin

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Authors

  • Ghausiya Rehman
     Special Center For Molecular Medicine, Jawaharlal Nehru University, New Delhi, India-110067 ,IN
  • Ayushi Chhabra
     Special Center For Molecular Medicine, Jawaharlal Nehru University, New Delhi, India-110067 ,IN
  • R.K. Tyagi
     Special Centre for Molecular Medicine, Jawaharlal Nehru University, Delhi, New Delhi – 110067 ,IN

DOI:

https://doi.org/10.18311/jer/2023/40029

Keywords:

Autism Spectrum Disorder, Polymorphism, Resistance to Thyroid Hormone, Thyroid Hormone, Thyroid Hormone Receptor Beta

Abstract

Thyroid hormone receptor β (THRβ) binds to thyroid hormones to execute various cellular and physiological processes as a ligand-inducible transcriptional factor. THRs, especially THRβ, are key players in the central regulation of the HPT axis. They ensure a delicate balance between thyroid hormone production and feedback control, allowing the body to adapt to changing environmental conditions. Polymorphisms in THRβ can lead to multiple clinical manifestations like resistance to thyroid hormone β, neurological or psychological disorders (like autism, intellectual disabilities, etc), and several types of cancers (papillary thyroid cancer, breast cancer, etc). This study examined two disease-inflicting polymorphic variants of THRβ, P323L, and P453S of Indian origin. It was observed that these variants exhibit impaired subcellular localization patterns, transcriptional functions, and compromised receptor stability. The study provides valuable insight into the cellular mechanism underlying receptor dysfunction and inflicting disease states. It is anticipated that disease-inflicting polymorphic variants of THRβ influence the structural and functional behavior of the receptor, contributing to the onset of disease. A concerted effort to gain the molecular basis of receptor dysregulation will help improve the assessment and management of THRβ-mediated diseases.

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Published

2024-08-26

How to Cite

Rehman, G., Chhabra, A., & Tyagi, R. (2024). Anomalous Behavior of Disease-Inflicting Polymorphic Variants of Nuclear Receptor THRβ of Indian Origin. Journal of Endocrinology and Reproduction, 28(1), 69–77. https://doi.org/10.18311/jer/2023/40029

Issue

Volume 28, Issue 1, March 2024

Section

Research Article
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