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探究外显子组在脆性 X 表型中的作用。

Toward an understanding of the role of the exposome on fragile X phenotypes.

机构信息

Department of Neurology, University of Wisconsin-Madison, Medical Sciences Center, Room 3619, 1300 University Avenue, Madison, WI, United States; Molecular Environmental Toxicology Center, University of Wisconsin-Madison, Medical Sciences Center, Room 3619, 1300 University Avenue, Madison, WI, United States.

出版信息

Int Rev Neurobiol. 2023;173:141-170. doi: 10.1016/bs.irn.2023.08.007. Epub 2023 Sep 12.

DOI:10.1016/bs.irn.2023.08.007
PMID:37993176
Abstract

Fragile X syndrome (FXS) is the leading known monogenetic cause of autism with an estimated 21-50% of FXS individuals meeting autism diagnostic criteria. A critical gap in medical care for persons with autism is an understanding of how environmental exposures and gene-environment interactions affect disease outcomes. Our research indicates more severe neurological and metabolic outcomes (seizures, autism, increased body weight) in mouse and human models of autism spectrum disorders (ASD) as a function of diet. Thus, early-life exposure to chemicals in the diet could cause or exacerbate disease outcomes. Herein, we review the effects of potential dietary toxins, i.e., soy phytoestrogens, glyphosate, and polychlorinated biphenyls (PCB) in FXS and other autism models. The rationale is that potentially toxic chemicals in the diet, particularly infant formula, could contribute to the development and/or severity of ASD and that further study in this area has potential to improve ASD outcomes through dietary modification.

摘要

脆性 X 综合征(FXS)是自闭症的主要已知单基因病因,估计有 21-50%的 FXS 个体符合自闭症诊断标准。自闭症患者医疗护理的一个关键空白是了解环境暴露和基因-环境相互作用如何影响疾病结果。我们的研究表明,自闭症谱系障碍(ASD)的小鼠和人类模型中,饮食会导致更严重的神经和代谢结果(癫痫发作、自闭症、体重增加)。因此,生命早期接触饮食中的化学物质可能会导致或加重疾病结果。在此,我们综述了潜在饮食毒素,即大豆植物雌激素、草甘膦和多氯联苯(PCB)在 FXS 和其他自闭症模型中的作用。其基本原理是,饮食中的潜在有毒化学物质,特别是婴儿配方奶粉,可能导致 ASD 的发展和/或严重程度,而在这一领域的进一步研究有可能通过饮食改变来改善 ASD 的结果。

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Soy-based purified ingredient diet affects mouse gut permeability and the microbiome in fragile X mice.大豆基纯化成分饮食会影响脆性X小鼠的肠道通透性和微生物群。
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