Vijayaraghavan Manaswini, Murali Sarvika Periyapalayam, Thakur Gitika, Li Xue-Jun
Department of Biomedical Sciences, University of Illinois College of Medicine Rockford, Rockford, IL, United States.
Department of Bioengineering, University of Illinois at Chicago, Chicago, IL, United States.
Front Cell Neurosci. 2025 Apr 15;19:1553658. doi: 10.3389/fncel.2025.1553658. eCollection 2025.
This review provides a comprehensive overview of hereditary spastic paraplegias (HSPs) and summarizes the recent progress on the role of glial cells in the pathogenesis of HSPs. HSPs are a heterogeneous group of neurogenetic diseases characterized by axonal degeneration of cortical motor neurons, leading to muscle weakness and atrophy. Though the contribution of glial cells, especially astrocytes, to the progression of other motor neuron diseases like amyotrophic lateral sclerosis (ALS) is well documented, the role of glial cells and the interaction between neurons and astrocytes in HSP remained unknown until recently. Using human pluripotent stem cell-based models of HSPs, a study reported impaired lipid metabolisms and reduced size of lipid droplets in HSP astrocytes. Moreover, targeting lipid dysfunction in astrocytes rescues axonal degeneration of HSP cortical neurons, demonstrating a non-cell-autonomous mechanism in axonal deficits of HSP neurons. In addition to astrocytes, recent studies revealed dysfunctions in HSP patient pluripotent stem cell-derived microglial cells. Increased microgliosis and pro-inflammation factors were also observed in HSP patients' samples, pointing to an exciting role of innate immunity and microglia in HSP. Building upon these recent studies, further investigation of the detailed molecular mechanism and the interplay between glial cell dysfunction and neuronal degeneration in HSP by combining human stem cell models, animal models, and patient samples will open avenues for identifying new therapeutic targets and strategies for HSP.
本综述全面概述了遗传性痉挛性截瘫(HSPs),并总结了神经胶质细胞在HSPs发病机制中的作用的最新进展。HSPs是一组异质性神经遗传性疾病,其特征是皮质运动神经元轴突退化,导致肌肉无力和萎缩。尽管神经胶质细胞,尤其是星形胶质细胞,对其他运动神经元疾病如肌萎缩侧索硬化症(ALS)进展的作用已有充分记录,但直到最近,神经胶质细胞的作用以及神经元与星形胶质细胞在HSP中的相互作用仍不清楚。一项使用基于人类多能干细胞的HSPs模型的研究报告称,HSP星形胶质细胞中脂质代谢受损,脂滴大小减小。此外,针对星形胶质细胞中的脂质功能障碍可挽救HSP皮质神经元的轴突退化,这表明HSP神经元轴突缺陷存在非细胞自主机制。除了星形胶质细胞,最近的研究还揭示了HSP患者多能干细胞衍生的小胶质细胞功能障碍。在HSP患者样本中也观察到小胶质细胞增生和促炎因子增加,这表明先天免疫和小胶质细胞在HSP中发挥着重要作用。基于这些最新研究,通过结合人类干细胞模型、动物模型和患者样本,进一步研究HSP中神经胶质细胞功能障碍与神经元退化之间的详细分子机制及其相互作用,将为识别HSP的新治疗靶点和策略开辟道路。