Faculty of Medical Sciences, Universidad of San Carlos of Guatemala, Guatemala City, Guatemala.
Genetics and Metabolic Clinic Coordinator, Hospital Obras Sociales del Santo Hermano Pedro, Antigua Guatemala City, Guatemala.
Neurogenetics. 2024 Nov 25;26(1):6. doi: 10.1007/s10048-024-00794-4.
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.
脆性 X 综合征 (FXS) 是导致智力障碍的主要遗传性病因，也是自闭症最常见的遗传相关病因。从历史上看，对其病理生理学的研究主要集中在神经元上；然而，新出现的证据表明其他细胞类型和系统也参与其中。本研究的目的是综述和综合目前关于脆性 X 综合征病理生理学的证据。使用 PubMed 和 Google Scholar 等数据库进行了全面的文献综述，使用了包括“脆性 X 综合征”、“FMR1 基因”和“FMRP”在内的 MeSH 术语。纳入了从创立到 2022 年在公认期刊上发表的人类和动物模型的研究。证据表明，神经元、神经胶质细胞、干细胞、免疫系统和脂质代谢途径均有助于脆性 X 综合征的病理生理学。需要进一步研究来独立探索这些领域并阐明它们的相互作用。
