Center for Neural Science, New York University, New York, NY 10003, USA.
Neurobiol Dis. 2012 Mar;45(3):1101-10. doi: 10.1016/j.nbd.2011.12.028. Epub 2011 Dec 16.
Tuberous sclerosis complex (TSC) and fragile X syndrome (FXS) are caused by mutations in negative regulators of translation. FXS model mice exhibit enhanced metabotropic glutamate receptor-dependent long-term depression (mGluR-LTD). Therefore, we hypothesized that a mouse model of TSC, ΔRG transgenic mice, also would exhibit enhanced mGluR-LTD. We measured the impact of TSC2-GAP mutations on the mTORC1 and ERK signaling pathways and protein synthesis-dependent hippocampal synaptic plasticity in ΔRG transgenic mice. These mice express a dominant/negative TSC2 that binds to TSC1, but has a deletion and substitution mutation in its GAP-domain, resulting in inactivation of the complex. Consistent with previous studies of several other lines of TSC model mice, we observed elevated S6 phosphorylation in the brains of ΔRG mice, suggesting upregulated translation. Surprisingly, mGluR-LTD was not enhanced, but rather was impaired in the ΔRG transgenic mice, indicating that TSC and FXS have divergent synaptic plasticity phenotypes. Similar to patients with TSC, the ΔRG transgenic mice exhibit elevated ERK signaling. Moreover, the mGluR-LTD impairment displayed by the ΔRG transgenic mice was rescued with the MEK-ERK inhibitor U0126. Our results suggest that the mGluR-LTD impairment observed in ΔRG mice involves aberrant TSC1/2-ERK signaling.
结节性硬化症复合征(TSC)和脆性 X 综合征(FXS)是由翻译负调控因子的突变引起的。FXS 模型小鼠表现出增强的代谢型谷氨酸受体依赖性长时程抑制(mGluR-LTD)。因此,我们假设 TSC 的小鼠模型,ΔRG 转基因小鼠,也会表现出增强的 mGluR-LTD。我们测量了 TSC2-GAP 突变对 mTORC1 和 ERK 信号通路以及蛋白合成依赖性海马突触可塑性的影响在 ΔRG 转基因小鼠中。这些小鼠表达一种显性/阴性 TSC2,它与 TSC1 结合,但在其 GAP 结构域中缺失和取代突变,导致复合物失活。与其他几种 TSC 模型小鼠的先前研究一致,我们观察到 ΔRG 小鼠大脑中的 S6 磷酸化升高,表明翻译上调。令人惊讶的是,mGluR-LTD 没有增强,而是受损,这表明 TSC 和 FXS 具有不同的突触可塑性表型。与 TSC 患者类似,ΔRG 转基因小鼠表现出升高的 ERK 信号。此外,用 MEK-ERK 抑制剂 U0126 挽救了 ΔRG 转基因小鼠中观察到的 mGluR-LTD 损伤。我们的结果表明,在 ΔRG 小鼠中观察到的 mGluR-LTD 损伤涉及异常的 TSC1/2-ERK 信号。