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脆性X综合征、自闭症及Fmr1基因敲除小鼠的社会行为表型:对麦克诺顿等人(2008年)的理论评论

Social behavior phenotypes in fragile X syndrome, autism, and the Fmr1 knockout mouse: theoretical comment on McNaughton et al. (2008).

作者信息

Brodkin Edward S

机构信息

Department of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania, School of Medicine, Philadelphia 19104-3403, USA.

出版信息

Behav Neurosci. 2008 Apr;122(2):483-9. doi: 10.1037/0735-7044.122.2.483.

Abstract

Comments on the article by C. H. McNaughton et al.. Individuals with fragile X syndrome (FXS) show varying degrees of social behavior disturbances, from social anxiety to autism. This variability of social behavior phenotypes in FXS is likely to be due to interactions of Fmr1 with other gene variants and environmental factors during brain development, although very little is known about the specific genetic and neural mechanisms involved. The Fmr1 knockout mouse is an important experimental resource for elucidating the neural mechanisms of social anxiety, social reward, and social cognition. However, studies of social behavior phenotypes in the Fmr1 knockout mouse are still in early stages. McNaughton et al provide important new information on these phenotypes in the Fmr1 knockout mouse through their use of novel, detailed behavioral analysis to identify signs of increased social anxiety and social cognition deficits. Their significant refinements in measurement of social behavior phenotypes will help to advance future efforts to elucidate the genetic and neural mechanisms underlying social behavior disturbances in FXS and autism.

摘要

对C. H. 麦克诺顿等人文章的评论。脆性X综合征(FXS)患者表现出不同程度的社会行为障碍,从社交焦虑到自闭症。FXS中这种社会行为表型的变异性可能是由于Fmr1在大脑发育过程中与其他基因变异和环境因素相互作用所致,尽管对其中涉及的具体遗传和神经机制知之甚少。Fmr1基因敲除小鼠是阐明社交焦虑、社会奖赏和社会认知神经机制的重要实验资源。然而,对Fmr1基因敲除小鼠社会行为表型的研究仍处于早期阶段。麦克诺顿等人通过使用新颖、详细的行为分析来识别社交焦虑增加和社会认知缺陷的迹象,为Fmr1基因敲除小鼠的这些表型提供了重要的新信息。他们在社会行为表型测量方面的重大改进将有助于推动未来阐明FXS和自闭症中社会行为障碍潜在遗传和神经机制的努力。

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