Department of Neuroscience, Medical Science Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.
PLoS Biol. 2013;11(8):e1001627. doi: 10.1371/journal.pbio.1001627. Epub 2013 Aug 13.
Tuberous sclerosis complex (TSC) is a multisystem genetic disease that manifests with mental retardation, tumor formation, autism, and epilepsy. Heightened signaling through the mammalian target of rapamycin (mTOR) pathway is involved in TSC pathology, however it remains unclear how other signaling pathways are perturbed and contribute to disease symptoms. Reduced long-term depression (LTD) was recently reported in TSC mutant mice. We find that although reduced LTD is a feature of the juvenile mutant hippocampus, heightened expression of metabotropic glutamate receptor 5 and constitutively activated Erk signaling in the adult hippocampus drives wild-type levels of LTD. Increased mGluR5 and Erk results in a novel mTOR-independent LTD in CA1 hippocampus of adult mice, and contributes to the development of epileptiform bursting activity in the TSC2(+/-) CA3 region of the hippocampus. Inhibition of mGluR5 or Erk signaling restores appropriate mTOR-dependence to LTD, and significantly reduces epileptiform bursting in TSC2(+/-) hippocampal slices. We also report that adult TSC2(+/-) mice exhibit a subtle perseverative behavioral phenotype that is eliminated by mGluR5 antagonism. These findings highlight the potential of modulating the mGluR5-Erk pathway in a developmental stage-specific manner to treat TSC.
结节性硬化症复合征(TSC)是一种多系统遗传性疾病,其表现为智力迟钝、肿瘤形成、自闭症和癫痫。哺乳动物雷帕霉素靶蛋白(mTOR)通路的信号增强与 TSC 病理学有关,但其他信号通路如何受到干扰并导致疾病症状尚不清楚。最近有报道称 TSC 突变小鼠的长时程抑制(LTD)减少。我们发现,尽管 LTD 在幼年突变型海马体中减少是其特征之一,但成年海马体中代谢型谷氨酸受体 5 的高表达和组成性激活的 Erk 信号转导会驱动野生型 LTD 的水平。增加的 mGluR5 和 Erk 导致成年小鼠 CA1 海马区中一种新型的 mTOR 非依赖性 LTD,并有助于 TSC2(+/-)海马区 CA3 区癫痫样爆发活动的发展。抑制 mGluR5 或 Erk 信号转导会使 LTD 恢复适当的 mTOR 依赖性,并显著减少 TSC2(+/-)海马切片中的癫痫样爆发。我们还报告称,成年 TSC2(+/-)小鼠表现出轻微的持续行为表型,这种表型可通过 mGluR5 拮抗剂消除。这些发现强调了以发育阶段特异性方式调节 mGluR5-Erk 通路以治疗 TSC 的潜力。