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Updated: Jun 6, 2025

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation
Published on: July 6, 2022
Understanding pathophysiology in fragile X syndrome: a comprehensive review
Juan Carlos Castillo Juárez1, Alejandro Aguilar Gómez2, Adrian Esteban Salatino Díaz2
1Faculty of Medical Sciences, Universidad of San Carlos of Guatemala, Guatemala City, Guatemala. jccj98@outlook.com.
None:
Fragile X syndrome (FXS) is the leading hereditary cause of intellectual disability and the most commonly associated genetic cause of autism. Historically, research into its pathophysiology has focused predominantly on neurons; however, emerging evidence suggests involvement of additional cell types and systems. The objective of this study was to review and synthesize current evidence regarding the pathophysiology of Fragile X syndrome. A comprehensive literature review was conducted using databases such as PubMed and Google Scholar, employing MeSH terms including "Fragile X Syndrome," "FMR1 gene," and "FMRP." Studies on both human and animal models, from inception to 2022, published in recognized journals were included. The evidence supports those neurons, glial cells, stem cells, the immune system, and lipid metabolism pathways contribute to the pathophysiology of Fragile X syndrome. Further research is necessary to explore these fields independently and to elucidate their interactions.
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