自闭症谱系障碍的突变小鼠模型。
Mutant mouse models of autism spectrum disorders.
机构信息
Laboratory of Molecular Neuropathology, Centre for Integrative Biology, University of Trento, Trento, Italy.
出版信息
Dis Markers. 2012;33(5):225-39. doi: 10.3233/DMA-2012-0917.
Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental diseases characterized by a triad of specific behavioral traits: abnormal social interactions, communication deficits and stereotyped or repetitive behaviors. Several recent studies showed that ASDs have a strong genetic basis, contributing to the discovery of a number of ASD-associated genes. Due to the genetic complexity of these disorders, mouse strains with targeted deletion of ASD genes have become an essential tool to investigate the molecular and neurodevelopmental mechanisms underlying ASD. Here we will review the most relevant genetic mouse models developed by targeted inactivation of ASD-associated genes, and discuss their importance for the development of novel pharmacological therapies of these disorders.
自闭症谱系障碍（ASD）是一组异质性神经发育疾病，其特征为三联具体行为特征：异常社交互动、沟通缺陷以及刻板或重复行为。最近的几项研究表明，ASD 具有很强的遗传基础，有助于发现许多与 ASD 相关的基因。由于这些疾病的遗传复杂性，靶向敲除 ASD 基因的小鼠品系已成为研究 ASD 潜在分子和神经发育机制的重要工具。在这里，我们将回顾通过靶向敲除与 ASD 相关基因而开发的最相关的遗传小鼠模型，并讨论它们在开发这些疾病的新型药物疗法方面的重要性。
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