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[Thyroid hormone receptors and its disorders].

Kozo Nishiyama1, Hirotoshi Nakamura

  • 1Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|February 23, 2002
PubMed
Summary

Resistance to thyroid hormone (RTH) is a genetic disorder caused by thyroid hormone receptor beta gene mutations. RTH leads to elevated thyroid hormones and TSH, often with mild hypothyroidism or other symptoms.

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Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Context:

  • Resistance to thyroid hormone (RTH) is a rare genetic disorder.
  • Characterized by elevated thyroid hormones and thyrotropin (TSH) levels.
  • Caused by mutations in the thyroid hormone receptor beta (TR beta) gene.

Purpose:

  • To describe the genetic basis and clinical manifestations of RTH.
  • To differentiate the roles of TR beta and TR alpha in thyroid hormone signaling.
  • To explain the dominant-negative mechanism of TR beta mutants.

Summary:

  • RTH results from TR beta gene mutations, leading to impaired thyroid hormone action.
  • Patients exhibit high thyroid hormones and TSH, often with subclinical hypothyroidism.
  • TR beta mutants interfere with normal TR function, causing the RTH phenotype.
  • TR alpha gene mutations have not been linked to human disease, but TR alpha is crucial for heart rate and metabolism regulation.

Impact:

  • Provides a comprehensive overview of RTH for researchers and clinicians.
  • Highlights the distinct roles of TR beta and TR alpha in thyroid hormone regulation.
  • Contributes to understanding the molecular mechanisms underlying endocrine disorders.

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