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自闭症生物标志物研发的啮齿类动物模型

Rodent Models for ASD Biomarker Development.

机构信息

Rosamund Stone Zander Translational Neuroscience Center, F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

出版信息

Adv Neurobiol. 2024;40:189-218. doi: 10.1007/978-3-031-69491-2_8.

Abstract

Advances in molecular biology and genetics are increasingly revealing the complex etiology of autism spectrum disorder (ASD). In parallel, a number of biochemical, anatomical, and electrophysiological measures are emerging as potential disease-relevant biomarkers that could inform the diagnosis and clinical management of ASD. Rodent ASD models play a key role in ASD research as essential experimental tools. Nevertheless, there are challenges and limitations to the validity and translational value of rodent models, including genetic relevance and cognitive performance differences between humans and rodents. In this chapter, we begin with a brief history of autism research, followed by prominent examples of disease-relevant mouse models enabled by current knowledge of genetics, molecular biology, and bioinformatics. These ASD-associated rodent models enable quantifiable biomarker development. Finally, we discuss the prospects of ASD biomarker development.

摘要

分子生物学和遗传学的进步越来越揭示出自闭症谱系障碍 (ASD) 的复杂病因。与此同时,许多生化、解剖和电生理学测量方法作为潜在的疾病相关生物标志物正在出现,这些标志物可以为 ASD 的诊断和临床管理提供信息。啮齿动物 ASD 模型作为重要的实验工具,在 ASD 研究中发挥着关键作用。然而,啮齿动物模型的有效性和转化价值存在挑战和限制,包括遗传相关性和人类与啮齿动物认知表现的差异。在本章中,我们首先简要介绍自闭症研究的历史,然后介绍当前遗传学、分子生物学和生物信息学知识所带来的与疾病相关的小鼠模型的突出例子。这些与 ASD 相关的啮齿动物模型可以实现可量化的生物标志物的开发。最后,我们讨论了 ASD 生物标志物开发的前景。

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