Asthana Pallavi, Kumar Gajendra, Milanowski Lukasz M, Au Ngan Pan Bennett, Chan Siu Chung, Huang Jianpan, Feng Hemin, Kwan Kin Ming, He Jufang, Chan Kannie Wai Yan, Wszolek Zbigniew K, Ma Chi Him Eddie
Department of Neuroscience, City University of Hong Kong, Tat Chee Avenue, Kowloon Tong, Hong Kong SAR.
Department of Neurology, Mayo Clinic, Jacksonville, USA.
NPJ Regen Med. 2022 Sep 5;7(1):45. doi: 10.1038/s41536-022-00243-6.
Peripheral nerve injury (PNI) often results in spontaneous motor recovery; however, how disrupted cerebellar circuitry affects PNI-associated motor recovery is unknown. Here, we demonstrated disrupted cerebellar circuitry and poor motor recovery in ataxia mice after PNI. This effect was mimicked by deep cerebellar nuclei (DCN) lesion, but not by damaging non-motor area hippocampus. By restoring cerebellar circuitry through DCN stimulation, and reversal of neurotransmitter imbalance using baclofen, ataxia mice achieve full motor recovery after PNI. Mechanistically, elevated glutamate-glutamine level was detected in DCN of ataxia mice by magnetic resonance spectroscopy. Transcriptomic study revealed that Gria1, an ionotropic glutamate receptor, was upregulated in DCN of control mice but failed to be upregulated in ataxia mice after sciatic nerve crush. AAV-mediated overexpression of Gria1 in DCN rescued motor deficits of ataxia mice after PNI. Finally, we found a correlative decrease in human GRIA1 mRNA expression in the cerebellum of patients with ataxia-telangiectasia and spinocerebellar ataxia type 6 patient iPSC-derived Purkinje cells, pointing to the clinical relevance of glutamatergic system. By conducting a large-scale analysis of 9,655,320 patients with ataxia, they failed to recover from carpal tunnel decompression surgery and tibial neuropathy, while aged-match non-ataxia patients fully recovered. Our results provide insight into cerebellar disorders and motor deficits after PNI.
周围神经损伤(PNI)常导致自发的运动恢复;然而,小脑神经回路的破坏如何影响与PNI相关的运动恢复尚不清楚。在这里,我们证明了PNI后共济失调小鼠的小脑神经回路受损且运动恢复较差。这种效应可由小脑深部核团(DCN)损伤模拟,但破坏非运动区域海马体则不会出现这种效应。通过DCN刺激恢复小脑神经回路,并使用巴氯芬逆转神经递质失衡,共济失调小鼠在PNI后实现了完全的运动恢复。从机制上讲,通过磁共振波谱在共济失调小鼠的DCN中检测到谷氨酸-谷氨酰胺水平升高。转录组学研究表明,离子型谷氨酸受体Gria1在对照小鼠的DCN中上调,但在坐骨神经挤压后共济失调小鼠中未能上调。AAV介导的DCN中Gria1过表达挽救了PNI后共济失调小鼠的运动缺陷。最后,我们发现共济失调毛细血管扩张症患者和6型脊髓小脑共济失调患者诱导多能干细胞来源的浦肯野细胞的小脑中人类GRIA1 mRNA表达呈相关下降,这表明谷氨酸能系统具有临床相关性。通过对9655320例共济失调患者进行大规模分析,发现他们在腕管减压手术和胫神经病变后未能恢复,而年龄匹配的非共济失调患者完全恢复。我们的研究结果为PNI后的小脑疾病和运动缺陷提供了见解。