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[Resistance to thyroid hormone]

K Takeda1, K Hashimoto

  • 1Second Department of Internal Medicine, Kochi Medical School.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|April 1, 1994
PubMed
Summary
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Resistance to thyroid hormone (RTH) involves reduced tissue response to thyroid hormone (TH). Mutations in the thyroid hormone receptor beta gene cause RTH, with dominant or recessive inheritance patterns observed.

Area of Science:

  • Endocrinology
  • Molecular Biology
  • Genetics

Context:

  • Resistance to thyroid hormone (RTH), also known as Refetoff's syndrome, is characterized by diminished target tissue responsiveness to thyroid hormone (TH).
  • While typically inherited in an autosomal dominant pattern, RTH can also present with recessive inheritance, as observed in specific familial cases.
  • Numerous mutations within the thyroid hormone receptor beta (TR beta) gene have been identified in families affected by RTH.

Purpose:

  • To investigate the genetic basis and molecular mechanisms underlying various forms of resistance to thyroid hormone.
  • To explore the role of dominant-negative effects and receptor-heterodimerization in the manifestation of RTH.
  • To elucidate the contribution of variations in TRE types, receptor isoforms, and auxiliary proteins to tissue-specific RTH.

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Summary:

  • Approximately 93 unrelated families exhibit RTH due to mutations in the TR beta gene, presenting clinically as generalized (GRTH) or pituitary (PRTH) resistance.
  • A family with recessively inherited RTH lacked the entire protein-coding region of both hTR beta alleles, with heterozygous parents showing no abnormalities.
  • The manifestation of RTH in heterozygotes requires a mutant receptor interfering with normal allele function via a dominant-negative effect, involving mutant TR homodimers or heterodimers with TRAP/RXR.

Impact:

  • Understanding the molecular mechanisms of TH action and RTH provides insights into thyroid hormone signaling pathways.
  • Identifying specific mutations and their functional consequences aids in diagnosing and potentially managing RTH.
  • Elucidating the role of dominant-negative effects and protein interactions contributes to the broader understanding of nuclear receptor function.