FRAGILE X SYNDROME AND AUTISM STUDY PUBLISHED IN NATURE NEUROSCIENCE

News item in Le Scienze

​Article in Nature

A European study conducted by the University of Leuven, Belgium and the University of Rome “Tor Vergata”, in conjunction with researchers from the VIB in Belgium and the CNCR in the Netherlands, has investigated the possibility that changes in the form of the most common inherited intellectual disability – fragile X syndrome – already take place in embryo, when neuronal cells migrate to build the cerebral cortex. The findings, published in the scientific journal Nature Neuroscience, demonstrate when and how the malfunction of a single gene causes seemingly imperceptible changes during embryonic development and the early stages of postnatal life.
The team led by Prof. Claudia Bagni of the Department of Biomedicine and Prevention at the University of Rome “Tor Vergata”, in collaboration with the University of Leuven and the University of Amsterdam, has identified a critical role played by the FMRP protein during embryonic development of the cerebral cortex. The study reveals that the absence of FMRP leads to a delay in the proper formation of the cortex, as well as showing that FMRP is responsible for the morphological transformation of neurons.