Synaptic protein dysfunction in neurodevelopmental disorders: The role of PDS-95 and neuroligin in Fragile X syndrome and autism

It is known that neurodevelopmental disorders such as Fragile-X Syndrome and autism have a strong genetic basis, yet the genes involved have not been clearly identified. Both disorders exhibit patterns indicative of abnormal or halted synaptic development (formation of the junction between neurons). Research indicates that these synaptic abnormalities may be the underlying neurological cause of these disorders. Genetic analyses of individuals with Fragile-x and autism revealed genes, and their proteins, thought to be involved in synapse formation and maintenance but the exact neurological mechanisms that lead to these diseases remain unknown. Rochelle Bruneau aims to clarify the role of the specific proteins involved in synapse development, testing for their implication in Fragile-X Syndrome and autism. She will study proteins involved in both the formation and function of synapses and hopes to examine potential therapeutic proteins for reducing the severity or preventing the onset of symptoms of neurodevelopmental disorders.