ADAT3 variants impair neuronal migration

Mutations in ADAT3, the catalytically inactive subunit of the ADAT2/ADAT3 complex (catalyzes the adenosine to inosine modification of eukaryotic tRNAs), have been identified in patients presenting with severe neurodevelopmental disorders but the physiological function of ADAT2/ADAT3 complex during brain development is not well understood.

The researchers report 21 neurodevelopmental disorders in patients carrying biallelic variants in ADAT3. 

The authors show that ADAT2/ADAT3 catalytic activity is essential for radial migration of projection neurons in the developing mouse cortex.

The researchers also correlated the severity of the migration phenotype with the degree of the loss of function caused by the variants.

https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awaf109/8090443

https://sciencemission.com/ADAT3-variants-and-neuronal-migration