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结节性硬化症患者的青少年长期抑郁减少,这是由于 mGluR5 和 Erk 信号的代偿性募集在成年期得到缓解。

Reduced juvenile long-term depression in tuberous sclerosis complex is mitigated in adults by compensatory recruitment of mGluR5 and Erk signaling.

机构信息

Department of Neuroscience, Medical Science Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.

出版信息

PLoS Biol. 2013;11(8):e1001627. doi: 10.1371/journal.pbio.1001627. Epub 2013 Aug 13.

DOI:10.1371/journal.pbio.1001627
PMID:23966835
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3742461/
Abstract

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.

摘要

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。

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本文引用的文献

1
Metabotropic glutamate receptor-dependent long-term depression is impaired due to elevated ERK signaling in the ΔRG mouse model of tuberous sclerosis complex.代谢型谷氨酸受体依赖性长时程抑制由于结节性硬化症的 ΔRG 小鼠模型中 ERK 信号的升高而受损。
Neurobiol Dis. 2012 Mar;45(3):1101-10. doi: 10.1016/j.nbd.2011.12.028. Epub 2011 Dec 16.
2
Mutations causing syndromic autism define an axis of synaptic pathophysiology.导致综合征性自闭症的突变定义了一个突触病理生理学轴。
Nature. 2011 Nov 23;480(7375):63-8. doi: 10.1038/nature10658.
3
Inhibition of the mammalian target of rapamycin blocks epilepsy progression in NS-Pten conditional knockout mice.
Female-specific dysfunction of sensory neocortical circuits in a mouse model of autism mediated by mGluR5 and estrogen receptor α.
自闭症小鼠模型中由 mGluR5 和雌激素受体 α 介导的感觉新皮层回路的女性特发性功能障碍。
Cell Rep. 2024 Apr 23;43(4):114056. doi: 10.1016/j.celrep.2024.114056. Epub 2024 Apr 5.
4
Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex.FMRP 降解增加导致结节性硬化症神经元过度兴奋。
Cell Rep. 2023 Aug 29;42(8):112838. doi: 10.1016/j.celrep.2023.112838. Epub 2023 Jul 25.
5
Metabotropic glutamate receptors (mGluRs) in epileptogenesis: an update on abnormal mGluRs signaling and its therapeutic implications.代谢型谷氨酸受体(mGluRs)在癫痫发生中的作用:mGluRs异常信号传导及其治疗意义的最新进展
Neural Regen Res. 2024 Feb;19(2):360-368. doi: 10.4103/1673-5374.379018.
6
Treatment-Resistant Epilepsy and Tuberous Sclerosis Complex: Treatment, Maintenance, and Future Directions.难治性癫痫与结节性硬化症复合体:治疗、维持及未来方向
Neuropsychiatr Dis Treat. 2023 Apr 5;19:733-748. doi: 10.2147/NDT.S347327. eCollection 2023.
7
mTOR Signaling Disruption and Its Association with the Development of Autism Spectrum Disorder.mTOR 信号通路异常及其与自闭症谱系障碍的发生发展的关系。
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雷帕霉素靶蛋白抑制剂阻断 NS-Pten 条件性敲除小鼠癫痫进展。
Epilepsia. 2011 Nov;52(11):2065-75. doi: 10.1111/j.1528-1167.2011.03280.x. Epub 2011 Oct 5.
4
Rescue of synaptic plasticity and spatial learning deficits in the hippocampus of Homer1 knockout mice by recombinant Adeno-associated viral gene delivery of Homer1c.通过重组腺相关病毒基因传递 Homer1c 拯救 Homer1 敲除小鼠海马中的突触可塑性和空间学习缺陷。
Neurobiol Learn Mem. 2012 Jan;97(1):17-29. doi: 10.1016/j.nlm.2011.08.009. Epub 2011 Sep 14.
5
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6
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Pediatr Neurol. 2011 May;44(5):328-32. doi: 10.1016/j.pediatrneurol.2011.01.001.
7
Rapamycin suppresses mossy fiber sprouting but not seizure frequency in a mouse model of temporal lobe epilepsy.雷帕霉素抑制颞叶癫痫小鼠模型中苔藓纤维发芽,但不能抑制癫痫发作频率。
J Neurosci. 2011 Feb 9;31(6):2337-47. doi: 10.1523/JNEUROSCI.4852-10.2011.
8
Tuberous sclerosis complex: neurological, renal and pulmonary manifestations.结节性硬化症复合体:神经、肾脏和肺部表现。
Neuropediatrics. 2010 Oct;41(5):199-208. doi: 10.1055/s-0030-1269906. Epub 2011 Jan 5.
9
Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome.过度敏感的 mGluR5 和 ERK1/2 导致脆性 X 综合征小鼠模型海马体中蛋白质过度合成。
J Neurosci. 2010 Nov 17;30(46):15616-27. doi: 10.1523/JNEUROSCI.3888-10.2010.
10
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N Engl J Med. 2010 Nov 4;363(19):1801-11. doi: 10.1056/NEJMoa1001671.