Understanding pathophysiology in fragile X syndrome: a comprehensive review.

Autor: Juárez JCC; Faculty of Medical Sciences, Universidad of San Carlos of Guatemala, Guatemala City, Guatemala. jccj98@outlook.com., Gómez AA; Faculty of Medical Sciences, Universidad of San Carlos of Guatemala, Guatemala City, Guatemala., Díaz AES; Faculty of Medical Sciences, Universidad of San Carlos of Guatemala, Guatemala City, Guatemala., Arévalo GS; Genetics and Metabolic Clinic Coordinator, Hospital Obras Sociales del Santo Hermano Pedro, Antigua Guatemala City, Guatemala.
Jazyk: angličtina
Zdroj: Neurogenetics [Neurogenetics] 2024 Nov 25; Vol. 26 (1), pp. 6. Date of Electronic Publication: 2024 Nov 25.
DOI: 10.1007/s10048-024-00794-4
Abstrakt: 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.
Competing Interests: Declarations. Ethics approval and consent to participate: Not applicable. Consent for publication: Not applicable. Competing interests: The authors declare no competing interests. Declaration of AI utilization: In the preparation of this manuscript, artificial intelligence tools were utilized exclusively for tasks such as language refinement and grammar checks, while ensuring that all scientific analysis, interpretation, and conclusions remain the work of the authors.
(© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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