Seminar Series

Brain plasticity in the context of The Fragile X Syndrome

My laboratory is investigating the cellular and molecular events that lead to the Fragile X Syndrome, the most common form of inherited mental retardation and a frequent cause of autism. Children with Fragile X Syndrome have developmental delay, anxiety, hyperactivity and often autism. The disease is caused by the absence of a single protein (FMRP), which is highly expressed in brain. At synapses FMRP regulates the synthesis of proteins that maintain the functional communication between neurons. As consequence, lack of FMRP leads to defects in neuronal shape and functions. To exert this function, FMRP acts together with CYFIP1, a protein implicated in intellectual disabiities, autism and schizophrenia. In cooperation with FMRP, CYFIP1 keeps the synthesis of specific proteins tightly controlled and coupled with the external stimuli. We have recently isolated the molecular complexes whereby CYFIP1 exerts its functions. We found a whole network of proteins cooperating with CYFIP1 to achieve the proper control of protein synthesis. Notably, those novel interactors are involved in intellectual disabilities, autism and schizophrenia. Furthermore, we have identified key regulatory factors able to modulate CYFIP1 upon synaptic activity. We believe that alterations in CYFIP1 networks and regulatory pathways might contribute to defects in neuronal functionality, ultimately affecting the development of different neuropsychiatric disorders.