Laboratory of Molecular Biology, Department of Biomedical Sciences, University of Sassari, Sassari, Italy.
Laboratory of Ecology, Department of Architecture, Design and Urban Planning, University of Sassari, Sassari, Italy.
Front Immunol. 2024 Mar 26;15:1360068. doi: 10.3389/fimmu.2024.1360068. eCollection 2024.
The complex interplay between genetic and environmental factors is considered the cause of neurodegenerative diseases including Parkinson's disease (PD) and Amyotrophic Lateral Sclerosis (ALS). Among the environmental factors, toxins produced by cyanobacteria have received much attention due to the significant increase in cyanobacteria growth worldwide. In particular, L-BMAA toxin, produced by diverse taxa of cyanobacteria, dinoflagellates and diatoms, has been extensively correlated to neurodegeneration. The molecular mechanism of L-BMAA neurotoxicity is still cryptic and far from being understood. In this research article, we have investigated the molecular pathways altered by L-BMAA exposure in cell systems, highlighting a significant increase in specific stress pathways and an impairment in autophagic processes. Interestingly, these changes lead to the accumulation of both α-synuclein and TDP43, which are correlated with PD and ALS proteinopathy, respectively. Finally, we were able to demonstrate specific alterations of TDP43 WT or pathological mutants with respect to protein accumulation, aggregation and cytoplasmic translocation, some of the typical features of both sporadic and familial ALS.
遗传和环境因素的复杂相互作用被认为是导致神经退行性疾病的原因,包括帕金森病(PD)和肌萎缩侧索硬化症(ALS)。在环境因素中,由于全球范围内蓝藻生长的显著增加,蓝藻产生的毒素受到了极大关注。特别是由不同蓝藻、甲藻和硅藻产生的 L-BMAA 毒素,与神经退行性变广泛相关。L-BMAA 神经毒性的分子机制仍然不明确,远未被理解。在这项研究中,我们研究了 L-BMAA 暴露在细胞系统中改变的分子途径,突出了特定应激途径的显著增加和自噬过程的损伤。有趣的是,这些变化导致 α-突触核蛋白和 TDP43 的积累,这分别与 PD 和 ALS 蛋白病相关。最后,我们能够证明 TDP43 WT 或病理性突变体在蛋白质积累、聚集和细胞质易位方面的特定改变,这些是散发性和家族性 ALS 的一些典型特征。