Russo Taylor, Kolisnyk Benjamin, Aswathy B S, Wan Kim Tae, Martin Jacqueline, Plessis-Belair Jonathan, Ni Jason, Pearson Jordan A, Park Emily J, Sher Roger B, Studer Lorenz, Riessland Markus
Department of Neurobiology and Behavior; Stony Brook University, Stony Brook, NY 11794, USA.
Center for Nervous System Disorders; Stony Brook University, Stony Brook, NY 11794, USA.
bioRxiv. 2023 Jul 21:2023.07.19.549710. doi: 10.1101/2023.07.19.549710.
Idiopathic Parkinson's Disease (PD) is characterized by the loss of dopaminergic neurons in the substantia nigra pars compacta, which is associated with neuroinflammation and reactive gliosis. The underlying cause of PD and the concurrent neuroinflammation are not well understood. In this study, we utilized human and murine neuronal lines, stem cell-derived dopaminergic neurons, and mice to demonstrate that three previously identified genetic risk factors for PD, namely SATB1, MIR22HG, and GBA, are components of a single gene regulatory pathway. Our findings indicate that dysregulation of this pathway leads to the upregulation of glucocerebrosides (GluCer), which triggers a cellular senescence-like phenotype in dopaminergic neurons. Specifically, we discovered that downregulation of the transcriptional repressor SATB1 results in the derepression of the microRNA miR-22-3p, leading to decreased GBA expression and subsequent accumulation of GluCer. Furthermore, our results demonstrate that an increase in GluCer alone is sufficient to impair lysosomal and mitochondrial function, thereby inducing cellular senescence dependent on S100A9 and stress factors. Dysregulation of the SATB1-MIR22-GBA pathway, observed in both PD patients and normal aging, leads to lysosomal and mitochondrial dysfunction due to the GluCer accumulation, ultimately resulting in a cellular senescence-like phenotype in dopaminergic neurons. Therefore, our study highlights a novel pathway involving three genetic risk factors for PD and provides a potential mechanism for the senescence-induced neuroinflammation and reactive gliosis observed in both PD and normal aging.
特发性帕金森病(PD)的特征是黑质致密部多巴胺能神经元的丧失,这与神经炎症和反应性胶质增生有关。PD的潜在病因以及并发的神经炎症尚未完全明确。在本研究中,我们利用人类和小鼠神经元系、干细胞衍生的多巴胺能神经元以及小鼠,来证明先前确定的三个PD遗传风险因素,即SATB1、MIR22HG和GBA,是单一基因调控途径的组成部分。我们的研究结果表明,该途径的失调导致葡萄糖脑苷脂(GluCer)上调,从而在多巴胺能神经元中引发类似细胞衰老的表型。具体而言,我们发现转录抑制因子SATB1的下调导致微小RNA miR - 22 - 3p的去抑制,进而导致GBA表达降低以及随后GluCer的积累。此外,我们的结果表明,单独GluCer的增加就足以损害溶酶体和线粒体功能,从而诱导依赖S100A9和应激因子的细胞衰老。在PD患者和正常衰老过程中均观察到的SATB1 - MIR22 - GBA途径失调,由于GluCer积累导致溶酶体和线粒体功能障碍,最终在多巴胺能神经元中产生类似细胞衰老的表型。因此,我们的研究突出了一条涉及PD三个遗传风险因素的新途径,并为在PD和正常衰老过程中观察到的衰老诱导的神经炎症和反应性胶质增生提供了一种潜在机制。