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Thyroglobulin gene point mutation associated with non-endemic simple goitre

J Corral1, C Martín, R Pérez

  • 1Departamento de Medicina-Unidad de Genética Molecular, Universidad de Salamanca, Spain.

Lancet (London, England)
|February 20, 1993
PubMed
Summary

Researchers identified a specific mutation in the thyroglobulin gene linked to non-endemic simple goitre. This genetic defect in thyroid metabolism may explain some cases of this thyroid enlargement disorder.

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Area of Science:

  • Endocrinology
  • Human Genetics
  • Molecular Biology

Background:

  • Simple goitre, a thyroid gland enlargement, often has an unknown cause.
  • Potential links exist between thyroid metabolism protein defects and goitre development.

Purpose of the Study:

  • To investigate the genetic basis of non-endemic simple goitre.
  • To identify specific gene mutations associated with the disorder.

Main Methods:

  • Genetic analysis of three families affected by simple goitre.
  • DNA sequencing of the thyroglobulin gene, specifically exon 10.

Main Results:

  • A missense mutation was identified in exon 10 of the thyroglobulin gene in 25 out of 56 family members.

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  • This mutation, a glutamine to histidine substitution, was present in 14 individuals with simple goitre.
  • The identified mutation was located at the thyroglobulin locus.

    • Conclusions:

    • A specific mutation in the thyroglobulin gene is associated with some cases of non-endemic simple goitre.
    • This finding provides insight into the molecular mechanisms underlying thyroid enlargement.
    • Genetic defects in thyroglobulin can contribute to thyroid dysfunction.