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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
Summary
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.
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