Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.
NeuroNetwork for Emerging Therapies, University of Michigan, Ann Arbor, MI 48109, USA.
Brain. 2024 Feb 1;147(2):665-679. doi: 10.1093/brain/awad306.
Amyotrophic lateral sclerosis (ALS) is a complex, fatal neurodegenerative disease. Disease pathophysiology is incompletely understood but evidence suggests gut dysbiosis occurs in ALS, linked to impaired gastrointestinal integrity, immune system dysregulation and altered metabolism. Gut microbiome and plasma metabolome have been separately investigated in ALS, but little is known about gut microbe-plasma metabolite correlations, which could identify robust disease biomarkers and potentially shed mechanistic insight. Here, gut microbiome changes were longitudinally profiled in ALS and correlated to plasma metabolome. Gut microbial structure at the phylum level differed in ALS versus control participants, with differential abundance of several distinct genera. Unsupervised clustering of microbe and metabolite levels identified modules, which differed significantly in ALS versus control participants. Network analysis found several prominent amplicon sequence variants strongly linked to a group of metabolites, primarily lipids. Similarly, identifying the features that contributed most to case versus control separation pinpointed several bacteria correlated to metabolites, predominantly lipids. Mendelian randomization indicated possible causality from specific lipids related to fatty acid and acylcarnitine metabolism. Overall, the results suggest ALS cases and controls differ in their gut microbiome, which correlates with plasma metabolites, particularly lipids, through specific genera. These findings have the potential to identify robust disease biomarkers and shed mechanistic insight into ALS.
肌萎缩侧索硬化症(ALS)是一种复杂的、致命的神经退行性疾病。疾病的病理生理学尚未完全理解,但有证据表明,ALS 中存在肠道菌群失调,与胃肠道完整性受损、免疫系统失调和代谢改变有关。肠道微生物组和血浆代谢组在 ALS 中分别进行了研究,但对于肠道微生物-血浆代谢物的相关性知之甚少,而这些相关性可能可以确定稳健的疾病生物标志物,并可能提供潜在的机制见解。在这里,我们对 ALS 患者的肠道微生物组进行了纵向分析,并将其与血浆代谢组相关联。在 ALS 患者与对照组参与者中,肠道微生物在门水平上的结构存在差异,有几个不同的属存在差异丰度。微生物和代谢物水平的无监督聚类识别出了模块,这些模块在 ALS 患者与对照组参与者中存在显著差异。网络分析发现,一些主要与脂质等代谢物相关的丰度较高的扩增子序列变异与一组代谢物强烈相关。同样,确定对病例与对照分离贡献最大的特征,也可以确定与代谢物相关的细菌,主要是脂质。孟德尔随机化表明,与脂肪酸和酰基辅酶 A 代谢相关的特定脂质可能存在因果关系。总体而言,这些结果表明,ALS 患者和对照组的肠道微生物组存在差异,肠道微生物组与血浆代谢物相关,特别是脂质,通过特定的属。这些发现有可能确定稳健的疾病生物标志物,并深入了解 ALS 的机制。