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Author Spotlight: In Vivo Assessment of Thyroid Hormone Disruption Using the THAI Mouse Model
04:14

Author Spotlight: In Vivo Assessment of Thyroid Hormone Disruption Using the THAI Mouse Model

Published on: October 6, 2023

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Gene polymorphisms and thyroid hormone signaling: implication for the treatment of hypothyroidism

Gustavo C Penna1, Federico Salas-Lucia1, Miriam O Ribeiro2

  • 1Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, University of Chicago, Chicago, IL, USA.

Endocrine
|September 23, 2023
PubMed
Abstract

Insights

Genetic variations in thyroid hormone (TH) signaling can affect levothyroxine (LT4) treatment effectiveness for hypothyroidism. Understanding these genetic factors may help identify patients who would benefit from combination LT4 and liothyronine (LT3) therapy.

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Genetic variations, including mutations and single nucleotide polymorphisms (SNPs), in thyroid hormone (TH) signaling pathways can influence treatment outcomes for hypothyroidism.
  • These genetic factors may impair the activation of levothyroxine (LT4) to its active form, triiodothyronine (T3), or affect T3's ability to reach target cells.

Purpose of the Study:

  • To review and examine gene mutations and SNPs within the TH cellular transport, deiodinase, and receptor systems.
  • To assess the impact of these genetic variations on TH signaling and their potential clinical implications for hypothyroidism treatment.

Main Methods:

  • Comprehensive literature review of PubMed.
  • Analysis of gene mutations and SNPs in key components of the TH signaling pathway.
  • Evaluation of their effects on TH signaling and clinical relevance.

Main Results:

  • Specific genetic variations, such as the Thr92Ala-DIO2 SNP, are linked to reduced T4 to T3 conversion, potentially limiting LT4 efficacy.
  • While some mechanisms show clear impacts, other genetic influences require further investigation with larger patient cohorts.

Conclusions:

  • Understanding the genetic profile of patients undergoing LT4 treatment is crucial for personalized medicine.
  • This knowledge can aid in the early identification of individuals who may respond better to combination therapy including LT3.
Keywords:
T3-signalingdeiodinasepolymorphismthyroidthyroxinetriiodothyronine

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