Understanding pathophysiology in fragile X syndrome: a comprehensive review.

IF 1.6 4区医学 Q3 CLINICAL NEUROLOGY

Neurogenetics Pub Date : 2024-11-25 DOI:10.1007/s10048-024-00794-4

Juan Carlos Castillo Juárez, Alejandro Aguilar Gómez, Adrian Esteban Salatino Díaz, Gabriel Silva Arévalo

引用次数: 0

Abstract

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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了解脆性 X 综合征的病理生理学：全面综述。

脆性 X 综合征（FXS）是导致智力障碍的主要遗传病因，也是自闭症最常见的相关遗传病因。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，新出现的证据表明还涉及其他细胞类型和系统。本研究旨在回顾和总结有关脆性 X 综合征病理生理学的现有证据。我们使用 PubMed 和 Google Scholar 等数据库进行了全面的文献综述，使用的 MeSH 术语包括 "脆性 X 综合征"、"FMR1 基因 "和 "FMRP"。收录了从开始到 2022 年在公认期刊上发表的有关人类和动物模型的研究。有证据表明，神经元、神经胶质细胞、干细胞、免疫系统和脂质代谢途径对脆性 X 综合征的病理生理学有影响。要独立探索这些领域并阐明它们之间的相互作用，还需要进一步的研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurogenetics 医学-临床神经学

CiteScore

3.90

自引率

0.00%

发文量

审稿时长

6 months

期刊介绍： Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.