Lunghi Giulia, Pedroli Carola, Tagliabue Ilaria, Dobi Dorina, Ciampa Maria Grazia, Mauri Laura, Rouvière Laura, Henriques Alexandre, Callizot Noelle, Sonnino Sandro, Chiricozzi Elena, Fazzari Maria
Department of Medical Biotechnology and Translational Medicine, University of Milano, Via Fr.Lli Cervi 93Segrate, 20054, Milan, Italy.
Neuro-Sys, 410 Chemin Départemental 60, 13120, Gardanne, France.
Glycoconj J. 2025 Jun 4. doi: 10.1007/s10719-025-10185-y.
Mutations in the glucocerebrosidase GBA gene, encoding the lysosomal enzyme β-glucocerebrosidase, represent the most frequent genetic risk factor for Parkinson's disease, leading to lysosomal dysfunction, α-synuclein aggregation, and mitochondrial impairment. In this study, we investigated the therapeutic potential of GM1 ganglioside and its oligosaccharide portion (OligoGM1) in a cellular model of GBA-associated Parkinson's disease, using SH-SY5Y neuroblastoma cells carrying the L444P GBA mutation. We observed that both GM1 and OligoGM1 reduced α-synuclein accumulation and improved cell viability. Notably, only OligoGM1 attenuated lysosomal overload and restored mitophagy. Additionally, OligoGM1 significantly prevented 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced toxicity, including lysosomal dysfunction, reactive oxidative species-overproduction, and mitochondrial energy failure, whereas GM1 failed to provide protection. These findings highlight the selective and multifaceted neuroprotective actions of OligoGM1 under both genetic conditions and environmental stress. Due to its small, hydrophilic nature and capacity to cross the blood-brain barrier, OligoGM1 emerges as a promising therapeutic candidate for GBA-related and potentially idiopathic forms of Parkinson's Disease.
编码溶酶体酶β-葡萄糖脑苷脂酶的葡萄糖脑苷脂酶GBA基因突变是帕金森病最常见的遗传风险因素,会导致溶酶体功能障碍、α-突触核蛋白聚集和线粒体损伤。在本研究中,我们使用携带L444P GBA突变的SH-SY5Y神经母细胞瘤细胞,在GBA相关帕金森病的细胞模型中研究了GM1神经节苷脂及其寡糖部分(OligoGM1)的治疗潜力。我们观察到GM1和OligoGM1都减少了α-突触核蛋白的积累并提高了细胞活力。值得注意的是,只有OligoGM1减轻了溶酶体过载并恢复了线粒体自噬。此外,OligoGM1显著预防了1-甲基-4-苯基-1,2,3,6-四氢吡啶(MPTP)诱导的毒性,包括溶酶体功能障碍、活性氧化物质过度产生和线粒体能量衰竭,而GM1未能提供保护。这些发现突出了OligoGM1在遗传条件和环境应激下的选择性和多方面神经保护作用。由于其小的亲水性性质和穿过血脑屏障的能力,OligoGM1成为GBA相关和潜在特发性帕金森病形式的有希望的治疗候选物。