CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome

摘要: Intellectual disability (ID) and autism spectrum disorders (ADS) have in common alterations some brain circuits abnormalities, such as synaptic transmission dendritic spines morphology. Recent studies indicated a differential expression for specific categories of genes cause both types disease, while an increasing number is recognized to produce disorders. An example the Fragile X Mental retardation gene, FMR1, whose silencing causes syndrome, most form intellectual autism, also characterized by physical hallmarks. FMRP, protein encoded RNA-binding with important role translational control. Among interactors CYFIP1/2 proteins are good candidates on bases their genetic implication functional properties, even if precise significance CYFIP/FMRP interaction not understood yet. CYFIP1 CYFIP2 represent link between Rac1, Wave complex favoring cross talk actin polymerization control