CNR, Neuroscience Institute Pisa, 56100 Pisa, Italy.
Biol Psychiatry. 2010 Apr 1;67(7):657-65. doi: 10.1016/j.biopsych.2009.12.022. Epub 2010 Feb 20.
Rett syndrome (RTT) is an X-linked progressive neurodevelopmental disorder characterized by a variety of symptoms including motor abnormalities, mental retardation, anxiety, and autism. Most of RTT cases are caused by mutations of MeCP2. In mice, impaired MeCP2 function results in synaptic deficits associated with motor, cognitive, and emotional alterations. Environmental enrichment (EE) is a rearing condition that enhances synapse formation and plasticity. Previous studies analyzing the effects of postweaning EE found limited effects on motor performance of male MeCP2 mutants. However, EE during early postnatal development produces powerful effects on neural development and plasticity. Thus, we tested whether early EE could ameliorate several phenotypes of male homozygous and female heterozygous MeCP2 mutants.
We investigated the effects of early EE on motor coordination, structural and functional synaptic plasticity, and brain-derived neurotrophic factor expression in male MeCP2 null mice. Anxiety-related behavior and spatial learning was analyzed in heterozygous MeCP2 female mice.
In male mutants, EE modified excitatory and to a lesser extent inhibitory synaptic density in cerebellum and cortex, reversed the cortical long-term potentiation deficit and augmented cortical brain-derived neurotrophic factor levels. Environmental enrichment also ameliorated motor coordination and motor learning. In female heterozygous mice, a model closely mimicking some aspects of RTT symptoms, EE rescued memory deficits in the Morris water maze and decreased anxiety-related behavior.
Early EE dramatically improves several phenotypes of MeCP2 mutants. Thus, environmental factors should be taken into account when analyzing phenotypes of MeCP2 knockout mice, an accepted model of RTT. Early EE might be beneficial in RTT patients.
雷特综合征(RTT)是一种 X 连锁进行性神经发育障碍,其特征是多种症状,包括运动异常、智力迟钝、焦虑和自闭症。大多数 RTT 病例是由 MeCP2 突变引起的。在小鼠中,MeCP2 功能受损会导致与运动、认知和情绪改变相关的突触缺陷。环境丰富(EE)是一种增强突触形成和可塑性的饲养条件。先前分析产后 EE 影响的研究发现,对雄性 MeCP2 突变体的运动表现影响有限。然而,早期产后 EE 对神经发育和可塑性产生强大影响。因此,我们测试了早期 EE 是否可以改善雄性纯合和雌性杂合 MeCP2 突变体的几种表型。
我们研究了早期 EE 对雄性 MeCP2 缺失小鼠运动协调、结构和功能突触可塑性以及脑源性神经营养因子表达的影响。在杂合 MeCP2 雌性小鼠中分析了焦虑相关行为和空间学习。
在雄性突变体中,EE 改变了小脑和皮质中的兴奋性和在较小程度上改变了抑制性突触密度,逆转了皮质长时程增强缺陷并增加了皮质脑源性神经营养因子水平。环境丰富还改善了运动协调和运动学习。在雌性杂合子小鼠中,一种模型紧密模拟了 RTT 症状的某些方面,EE 挽救了 Morris 水迷宫中的记忆缺陷并降低了焦虑相关行为。
早期 EE 显著改善了 MeCP2 突变体的几种表型。因此,在分析 MeCP2 敲除小鼠的表型时应考虑环境因素,MeCP2 敲除小鼠是 RTT 的公认模型。早期 EE 可能对 RTT 患者有益。