Pozner Tatyana, Schray Annika, Regensburger Martin, Lie Dieter Chichung, Schlötzer-Schrehardt Ursula, Winkler Jürgen, Turan Soeren, Winner Beate
Department of Stem Cell Biology, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
Department of Neurology, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
Front Neurosci. 2018 Dec 6;12:914. doi: 10.3389/fnins.2018.00914. eCollection 2018.
Mutations in SPG11 cause a complicated autosomal recessive form of hereditary spastic paraplegia (HSP). Mechanistically, there are indications for the dysregulation of the GSK3β/βCat signaling pathway in SPG11. In this study, we tested the therapeutic potential of the GSK3β inhibitor, tideglusib, to rescue neurodegeneration associated characteristics in an induced pluripotent stem cells (iPSCs) derived neuronal model from SPG11 patients and matched healthy controls as well as a CRISPR-Cas9 mediated SPG11 knock-out line and respective control. SPG11-iPSC derived cortical neurons, as well as the genome edited neurons exhibited shorter and less complex neurites than controls. Administration of tideglusib to these lines led to the rescue of neuritic impairments. Moreover, the treatment restored increased cell death and ameliorated the membranous inclusions in iPSC derived SPG11 neurons. Our results provide a first evidence for the rescue of neurite pathology in SPG11-HSP by tideglusib. The current lack of disease-modifying treatments for SPG11 and related types of complicated HSP renders tideglusib a candidate compound for future clinical application.
SPG11基因的突变会导致一种复杂的常染色体隐性遗传性痉挛性截瘫(HSP)。从机制上讲,有迹象表明SPG11中GSK3β/β连环蛋白信号通路失调。在本研究中,我们测试了GSK3β抑制剂替格列汀在源自SPG11患者和匹配健康对照的诱导多能干细胞(iPSC)神经元模型以及CRISPR-Cas9介导的SPG11基因敲除系和相应对照中挽救神经退行性相关特征的治疗潜力。源自SPG11-iPSC的皮质神经元以及经基因组编辑的神经元与对照相比,神经突更短且复杂性更低。对这些细胞系施用替格列汀可挽救神经突损伤。此外,该治疗恢复了iPSC衍生的SPG11神经元中增加的细胞死亡,并改善了膜内包涵体。我们的结果首次证明替格列汀可挽救SPG11-HSP中的神经突病理。目前缺乏针对SPG11和相关类型复杂HSP的疾病修饰治疗方法,这使得替格列汀成为未来临床应用的候选化合物。