The Center for Metabolism and Obesity Research, The Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA; Department of Neuroscience, The Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA; Departamento de Química Biológica, Facultad de Ciencias Químicas, CIQUIBIC-CONICET, Universidad Nacional de Córdoba, X5000HUA Córdoba, Argentina.
The Center for Metabolism and Obesity Research, The Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA; Department of Neuroscience, The Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA.
Mol Cell Neurosci. 2014 Mar;59:63-75. doi: 10.1016/j.mcn.2014.01.005. Epub 2014 Jan 25.
Methyl CpG binding protein 2 (MeCP2) is a structural chromosomal protein involved in the regulation of gene expression. Alterations in the levels of MeCP2 have been related to neurodevelopmental disorders. Studies in mouse models of MeCP2 deficiency have demonstrated that this protein is important for neuronal maturation, neurite complexity, synaptogenesis, and synaptic plasticity. However, the mechanisms by which MeCP2 dysfunction leads to neurodevelopmental defects, and the role of activity, remain unclear, as most studies examine the adult nervous system, which may obfuscate the primary consequences of MeCP2 mutation. We hypothesize that MeCP2 plays a role during the formation and activity-driven maturation of neural circuits at early postnatal stages. To test this hypothesis, we use the olfactory system as a neurodevelopmental model. This system undergoes postnatal neurogenesis; axons from olfactory neurons form highly stereotyped projections to higher-order neurons, facilitating the detection of possible defects in the establishment of connectivity. In vivo olfactory stimulation paradigms were used to produce physiological synaptic activity in gene-targeted mice in which specific olfactory circuits are visualized. Our results reveal defective postnatal refinement of olfactory circuits in Mecp2 knock out (KO) mice after sensory (odorant) stimulation. This failure in refinement was associated with deficits in the normal responses to odorants, including brain-derived neurotrophic factor (BDNF) production, as well as changes in adhesion molecules known to regulate axonal convergence. The defective refinement observed in Mecp2 KO mice was prevented by daily treatment with ampakine beginning after the first postnatal week. These observations indicate that increasing synaptic activity at early postnatal stage might circumvent the detrimental effect of MeCP2 deficiency on circuitry maturation. The present results provide in vivo evidence in real time for the role of MeCP2 in activity-dependent maturation of olfactory circuitry, with implications for understanding the mechanism of MeCP2 mutations in the development of neural connectivity.
甲基化 CpG 结合蛋白 2(MeCP2)是一种参与基因表达调控的结构性染色体蛋白。MeCP2 水平的改变与神经发育障碍有关。在 MeCP2 缺乏的小鼠模型研究中,已经证明这种蛋白对于神经元成熟、神经突复杂性、突触发生和突触可塑性都很重要。然而,MeCP2 功能障碍导致神经发育缺陷的机制以及活动的作用仍不清楚,因为大多数研究都在检查成年神经系统,这可能会混淆 MeCP2 突变的主要后果。我们假设 MeCP2 在出生后早期神经回路的形成和活动驱动的成熟过程中发挥作用。为了验证这一假设,我们使用嗅觉系统作为神经发育模型。这个系统在出生后会发生神经发生;嗅神经元的轴突形成高度刻板的投射到高级神经元,有助于发现连接建立过程中可能存在的缺陷。使用体内嗅觉刺激范式,对特定嗅觉回路可视化的基因靶向小鼠进行生理突触活性的检测。我们的研究结果揭示了在嗅觉刺激后,Mecp2 敲除(KO)小鼠的嗅觉回路在出生后出现了缺陷性的精细调整。这种精细调整的缺陷与正常对气味的反应缺陷有关,包括脑源性神经营养因子(BDNF)的产生,以及已知调节轴突汇聚的黏附分子的变化。在 Mecp2 KO 小鼠中观察到的缺陷性精细调整,可以通过在出生后第一周后开始每天用 AMPAKINE 治疗来预防。这些观察结果表明,在出生后早期增加突触活动可能会规避 MeCP2 缺乏对回路成熟的有害影响。本研究结果为 MeCP2 在嗅觉回路的活动依赖性成熟中的作用提供了体内实时证据,对于理解 MeCP2 突变在神经连接发育中的作用机制具有重要意义。