Topic: CGG triplet repetition

Fragile X Syndrome (FXS) is the most common neurodevelopmental disorder associated with intellectual disabilities. In FXS, an increased CGG triplet repetition in the fmr1 gene, cause the hypermethylation of the 5’UTR and, in turn leads to the gene silencing and the absence of the Fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein, able to regulate the expression of different RNAs and fundamental for synapses function. FMRP is expressed in neurons but also in astrocytes and microglia, the other key cells of the brain. Despite many studies have focused their attentions o