What are the Tubulinopathies?
Tubulinopathy is an umbrella term describing a group of disorders caused by changes, or mutations, in one of many Tubulin genes.
Tubulinopathy mutations are small and spontaneous errors in the DNA sequence containing information to produce tubulin proteins.
Tubulin mutations often cause subtle changes to the composition of tubulin proteins; however, this can be enough to affect their ability to form the heterodimer or co-assemble into microtubules. If they can still incorporate into Microtubules, they can affect the microtubule stability, dynamics and even interactions with other proteins critical to brain development.
Consequently, what starts as a subtle change in a tubulin gene can impair the correct functioning of Microtubules, resulting in often profound effects on brain development.
Tubulin gene mutations can cause a spectrum of diseases, often characterised by brain malformations such as a reduction in brain size or irregularities of brain surface patterning. Depending on the severity of the structural effects, these disorders are often associated with other conditions that range from learning difficulties to drug-resistant seizures, profound developmental delay, and reduced life-expectancy.
The severity and type of tubulinopathy will largely depend on the specific tubulin gene affected, the specific mutation within this gene, but also other factors. For further information specific to each tubulinopathy gene, please click on the links below.