Brain Sciences


Study identifies new genetic neurodevelopmental disorder in children

22 December 2023

Researchers from the Neurogenetics Lab at the Queen Square Institute of Neurology have discovered a link between defective genes and abnormal brain development after birth.


New research co-led by Dr Vincenzo Salpietro, Dr Reza Maroofian and Professor Henry Houlden (all Queen Square Institute of Neurology) has found that a genetic deficiency in either the GTPBP1 or GTPBP2 proteins leads to a neurodevelopmental disorder in children. The disease has been characterised as ‘GREND syndrome’ (GTPBP1(1/2)-Related Ectodermal NeuroDevelopmental Syndrome). 

Children affected by GREND syndrome may exhibit distinct and severe clinical presentations, including microcephaly, seizures, and defects in the visual and auditory system. Families affected by the syndrome were identified from countries including UK, Pakistan, Saudi Arabia, Iran, Egypt and Italy. This genetic discovery resulted from a large international collaborative effort, involving over 60 researchers from more than 10 countries.   

The study involved using models of the Drosophila Melanogaster, or the common fruit fly, from Professor James Jepson’s lab (Queen Square Institute of Neurology) to analyse the effects of silencing the proteins involved in GREND syndrome. These Drosphila models exhibited neurological damage similar to that seen affected children. 

These findings open avenues for further research into potential therapeutic interventions and genetic counseling for families affected by GREND syndrome. 

Dr Salpietro and Dr Maroofian explain the discovery: "Ribosomes are small organelles within cells and act like 'protein printers' based on everyone's genetic material. The defective genes (i.e., GTPBP1 or GTPBP2) we found in this group of children are crucial for ribosomes to 'print' a series of proteins correctly, and their deficiency leads to abnormal brain development since birth."