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唐氏综合征 Ts65Dn 小鼠模型的认知和药理学研究进展。

Cognitive and pharmacological insights from the Ts65Dn mouse model of Down syndrome.

机构信息

Department of Neurodegenerative Disease, UCL Institute of Neurology, London, WC1N 3BG, UK.

出版信息

Curr Opin Neurobiol. 2012 Oct;22(5):880-6. doi: 10.1016/j.conb.2012.05.002. Epub 2012 May 30.

Abstract

Down syndrome (DS) is a multi-faceted condition resulting in the most common genetic form of intellectual disability. Mouse models of DS, especially the Ts65Dn model, have been pivotal in furthering our understanding of the genetic, molecular and neurobiological mechanisms that underlie learning and memory impairments in DS. Cognitive and pharmacological insights from the Ts65Dn mouse model have led to remarkable translational progress in the development of therapeutic targets and in the emergence of DS clinical trials. Unravelling the pathogenic role of trisomic genes on human chromosome 21 and the genotype-phenotype relationship still remains a pertinent goal for tackling cognitive deficits in DS.

摘要

唐氏综合征(DS)是一种多方面的病症,导致最常见的遗传性智力障碍。DS 的小鼠模型,特别是 Ts65Dn 模型,对于深入了解学习和记忆障碍的遗传、分子和神经生物学机制至关重要。Ts65Dn 小鼠模型的认知和药理学见解为治疗靶点的开发和 DS 临床试验的出现带来了显著的转化进展。阐明人类 21 号染色体三体基因的致病作用和基因型-表型关系仍然是解决 DS 认知缺陷的一个重要目标。

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