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用于理解 FMRP 功能和 FXS 病理的新型动物模型。

New Animal Models for Understanding FMRP Functions and FXS Pathology.

机构信息

REI Division, Department of ObGyn, University of Washington, Seattle, WA 98195, USA.

Washington National Primate Research Center, University of Washington, Seattle, WA 98195, USA.

出版信息

Cells. 2022 May 12;11(10):1628. doi: 10.3390/cells11101628.

Abstract

Fragile X encompasses a range of genetic conditions, all of which result as a function of changes within the FMR1 gene and abnormal production and/or expression of the FMR1 gene products. Individuals with Fragile X syndrome (FXS), the most common heritable form of intellectual disability, have a full-mutation sequence (>200 CGG repeats) which brings about transcriptional silencing of FMR1 and loss of FMR protein (FMRP). Despite considerable progress in our understanding of FXS, safe, effective, and reliable treatments that either prevent or reduce the severity of the FXS phenotype have not been approved. While current FXS animal models contribute their own unique understanding to the molecular, cellular, physiological, and behavioral deficits associated with FXS, no single animal model is able to fully recreate the FXS phenotype. This review will describe the status and rationale in the development, validation, and utility of three emerging animal model systems for FXS, namely the nonhuman primate (NHP), Mongolian gerbil, and chicken. These developing animal models will provide a sophisticated resource in which the deficits in complex functions of perception, action, and cognition in the human disorder are accurately reflected and aid in the successful translation of novel therapeutics and interventions to the clinic setting.

摘要

脆性 X 综合征涵盖了一系列遗传疾病,所有这些疾病都是由于 FMR1 基因的变化以及 FMR1 基因产物的异常产生和/或表达所致。脆性 X 综合征(FXS)是最常见的遗传性智力障碍形式,患者的 FMR1 基因出现全突变序列(>200 个 CGG 重复),导致 FMR1 的转录沉默和 FMR 蛋白(FMRP)的缺失。尽管我们对 FXS 的理解取得了相当大的进展,但尚未批准安全、有效和可靠的治疗方法来预防或减轻 FXS 表型的严重程度。虽然目前的 FXS 动物模型为与 FXS 相关的分子、细胞、生理和行为缺陷提供了自己独特的理解,但没有一种动物模型能够完全重现 FXS 表型。本文综述了三种新兴的 FXS 动物模型系统(即非人灵长类动物、蒙古沙鼠和鸡)的开发、验证和应用现状和原理。这些正在开发的动物模型将为人类疾病中复杂感知、动作和认知功能的缺陷提供一个精确反映的复杂资源,并有助于将新型治疗方法和干预措施成功转化为临床应用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/625b/9140010/da74e298a2ba/cells-11-01628-g001.jpg

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