Fragile X Syndrome (FXS) is the most frequent form of inherited intellectual disability and monogenic cause of Autism Spectrum Disorder (ASD). FXS is due to the absence or mutations of the RNA binding protein FMRP that together with CYFIP1 regulates the synthesis of key synaptic proteins. In the brain CYFIP1 has a dual function: it is able to repress translation of FMRP-targeted mRNAs and it regulates actin cytoskeleton. CYFIP1 maps on chromosome 15.q.11.2, a highly unstable chromosomal region that is the locus of the BP1-BP2 deletion syndrome. Furthermore, deletions or duplications encompassing the CYFIP1 gene predispose to ASD, idiopathic generalized epilepsies and schizophrenia, making the study of this gene relevant for several human brain pathologies. The aims of this project are: 1) to perform behavioral studies in a fruitfly model system that mimics the reduction of CYFIP in different neuronal populations (neurotransmitter systems); 2) to ameliorate the behavioral and cellular phenotypes observed in the fruitfly model with reduced CYFIP.
Interagency Autism Coordinating Committee (IACC)
Autism Research Database (AFD)
