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TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

Athanasia Stoupa1,2,3,4, Frédéric Adam5, Dulanjalee Kariyawasam3,4

  • 1INSERM U1016, Faculté de Médecine, Cochin Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.

EMBO Molecular Medicine
|November 18, 2018
PubMed

Insights

Novel mutations in the TUBB1 gene cause congenital hypothyroidism due to thyroid dysgenesis. These findings reveal new roles for beta-1 tubulin in thyroid development and platelet function.

Area of Science:

  • Genetics
  • Developmental Biology
  • Cell Biology

Background:

  • Congenital hypothyroidism (CH) due to thyroid dysgenesis (TD) has unknown genetic causes.
  • The TUBB1 gene, encoding beta-1 tubulin, is crucial for microtubule formation.

Purpose of the Study:

  • To investigate the genetic basis of congenital hypothyroidism and thyroid dysgenesis.
  • To explore the role of the TUBB1 gene in thyroid development and platelet physiology.

Main Methods:

  • Genetic analysis of families with congenital hypothyroidism and thyroid dysgenesis.
  • Functional studies using cell cultures and mouse models.
  • Platelet aggregation assays.

Main Results:

  • Identified three novel TUBB1 gene mutations co-segregating with TD in three families.
  • TUBB1 mutations resulted in non-functional tubulin dimers, disrupting microtubule integrity.
  • Tubb1 knockout in mice impaired thyroid development, migration, and hormone secretion.
  • TUBB1 mutations in humans led to macroplatelets and platelet hyperaggregation.

Conclusions:

  • TUBB1 mutations are a cause of congenital hypothyroidism due to thyroid dysgenesis.
  • Beta-1 tubulin plays a critical, previously unrecognized role in thyroid development and platelet function.
  • These findings expand the understanding of rare pediatric diseases linked to tubulin gene mutations.

Keywords:
TUBB1congenital hypothyroidismmacroplateletsmutationsthyroid dysgenesis

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