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Related Experiment Video

Updated: Dec 25, 2025

Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation
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Rare PTH Gene Mutations Causing Parathyroid Disorders: A Review.

Joon Hyop Lee1,2, Munkhtugs Davaatseren1, Sihoon Lee1,3

  • 1Laboratory of Genomics and Translational Medicine, Gachon University College of Medicine, Incheon, Korea.

Endocrinology and Metabolism (Seoul, Korea)
|March 25, 2020
PubMed
Summary

Eight parathyroid hormone (PTH) gene mutations have been identified, offering insights into PTH function and disease mechanisms. Continued research into PTH mutations will further enhance our understanding of this vital hormone.

Keywords:
GenesHyperparathyroidismHypoparathyroidismMutationParathyroid glandsParathyroid hormone

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Area of Science:

  • Endocrinology
  • Molecular Biology
  • Genetics

Background:

  • Parathyroid hormone (PTH) plays a crucial role in calcium homeostasis.
  • Since the isolation and sequencing of the PTH gene, only eight distinct mutations have been identified.

Purpose of the Study:

  • To review and summarize the known mutations in the human PTH gene.
  • To discuss the impact of these mutations on parathyroid cell function and associated diseases.
  • To highlight the importance of ongoing mutation discovery for understanding PTH's role.

Main Methods:

  • Literature review of reported PTH gene mutations.
  • Analysis of mutation characteristics, including inheritance patterns and associated clinical phenotypes.
  • Review of molecular mechanisms underlying the effects of identified mutations.

Main Results:

  • Eight PTH gene mutations have been reported, including C18R, an exon-skipping mutation, S23P, S23X, R83X, p.Met1_Asp6del, R56C, and M14K.
  • These mutations are associated with various conditions, including hypoparathyroidism and hyperparathyroidism.
  • Specific mutations induce endoplasmic reticulum stress, apoptosis, or prevent translation initiation, impacting PTH function.

Conclusions:

  • The identified PTH mutations provide valuable insights into PTH gene function and the molecular basis of related disorders.
  • Further discovery of PTH mutations is essential for a more sophisticated understanding of PTH's physiological roles and pathological implications.