Abstract

Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability and is a significant genetic contributor to autism spectrum disorders. Herein, we examine recent advancements in targeted therapies and molecular modulation for FXS, emphasizing the breakthroughs and ongoing challenges in the field. Inhibition of metabotropic glutamate receptor 5 (mGluR5) has shown promise in preclinical models, but clinical trials have encountered obstacles such as treatment resistance, necessitating the exploration of intermittent dosing strategies and combination therapies. Gene therapy, particularly CRISPR/ Cas9, offers a potential avenue for addressing the root genetic causes of FXS, although technical and safety challenges remain. Additionally, modulation of Rac1 and GABAergic signaling has emerged as a novel approach to restore proper dendritic morphology and reduce neuronal hyperexcitability. These multifaceted strategies highlight the complexity of FXS treatment and the need for continued research to translate these findings into effective clinical interventions. Through an integrated approach, these innovations hold promise for significantly improving the quality of life of individuals affected by Fragile X Syndrome.

Keywords

fragile X syndrome, therapeutics, behavior, clinic, mitochondria