FMR1 Key Biomarker in Fragile X Syndrome- A Comprehensive Review

Abstract

Fragile X Syndrome (FXS) is a complex neurodevelopmental disorder associated with intellectual disability, behavioral challenges, and various physical manifestations. Central to understanding FXS is the Fragile X Mental Retardation 1 (FMR1) gene, pivotal in the disorder's pathogenesis. This review examines FMR1 as a key biomarker in FXS, drawing on recent research insights. The FMR1 gene, located on the X chromosome, encodes fragile X mental retardation protein (FMRP), crucial for synaptic function and brain plasticity. Mutations in FMR1, including CGG repeat expansions, cause FXS, resulting in cognitive and behavioral impairments. Advances in molecular genetics elucidate FMR1 dysfunction and its roles in FXS phenotypes. Diagnostic approaches involve DNA testing for FMR1 mutations, essential for accurate diagnosis and genetic counseling. FMR1 serves as a biomarker for disease monitoring and treatment evaluation. Emerging therapies targeting FMR1-related pathways offer promise for FXS intervention, highlighting FMR1 as a therapeutic target. Understanding FMR1's roles in FXS pathophysiology informs precision medicine approaches. Elucidating FXS's molecular basis and leveraging FMR1 as a biomarker aim to advance diagnostics, refine therapies, and improve outcomes. This review underscores FMR1's pivotal role in FXS research and clinical practice, emphasizing its potential as a key biomarker for guiding precision medicine interventions.