Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues

Neurobiol Dis. 2024 Mar 26:106486. doi: 10.1016/j.nbd.2024.106486. Online ahead of print.ABSTRACTFragile X Syndrome (FXS) is a neurodevelopment disorder characterized by cognitive impairment, behavioral challenges, and synaptic abnormalities, with a genetic basis linked to a mutation in the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene that results in a deficiency or absence of its protein product, Fragile X Messenger Ribonucleoprotein (FMRP). In recent years, mass spectrometry (MS) - based proteomics has emerged as a powerful tool to uncover the complex molecular landscape underlying FXS. This review provides a comprehensive overview of the proteomics studies focused on FXS, summarizing key findings with an emphasis on dysregulated proteins associated with FXS. These proteins span a wide range of cellular functions including, but not limited to, synaptic plasticity, RNA translation, and mitochondrial function. The work conducted in these proteomic studies provides a more holistic understanding to the molecular pathways involved in FXS and considerably enhances our knowledge into the synaptic dysfunction seen in FXS.PMID:38548140 | DOI:10.1016/j.nbd.2024.106486
Source: Neurobiology of Disease - Category: Neurology Authors: Source Type: research