Genomic duplications spanning Xq28 are associated with a spectrum of phenotypes, including anxiety and autism. The minimal region shared among affected individuals includes MECP2 and IRAK1, although it is unclear which gene when overexpressed causes anxiety and social behavior deficits. We report that doubling MECP2 levels causes heightened anxiety and autism-like features in mice and alters the expression of genes that influence anxiety and social behavior, such as Crh and Oprm1. To test the hypothesis that alterations in these two genes contribute to heightened anxiety and social behavior deficits, we analyzed MECP2 duplication mice (MECP2-TG1) that have reduced Crh and Oprm1 expression. In MECP2-TG1 animals, reducing the levels of Crh or its receptor, Crhr1, suppressed anxiety-like behavior; in contrast, reducing Oprm1 expression improved abnormal social behavior. These data indicate that increased MeCP2 levels affect molecular pathways underlying anxiety and social behavior and provide new insight into potential therapies for MECP2-related disorders.

译文

:跨越Xq28的基因组重复与一系列表型有关,包括焦虑症和自闭症。在受影响的个体之间共享的最小区域包括MECP2和IRAK1,尽管不清楚哪个基因过表达会导致焦虑和社交行为缺陷。我们报告说,将MECP2水平提高一倍会引起小鼠焦虑和自闭症样症状的加剧,并改变影响焦虑和社交行为的基因的表达,例如Crh和Oprm1。为了检验以下假设:这两个基因的改变会加剧焦虑和社交行为缺陷,我们分析了Crh和Oprm1表达降低的MECP2复制小鼠(MECP2-TG1)。在MECP2-TG1动物中,降低Crh或其受体Crhr1的水平可抑制焦虑样行为;相反,减少Oprm1表达可改善异常社交行为。这些数据表明,增加的MeCP2水平会影响潜在的焦虑和社交行为的分子途径,并为与MECP2相关的疾病的潜在疗法提供新的见解。

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