Sampson Timothy R, Tansey Malú Gámez, West Andrew B, Liddle Rodger A
Department of Cell Biology, Emory University School of Medicine, Atlanta, GA, 30329, USA.
Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.
Mol Neurodegener. 2025 Jan 30;20(1):14. doi: 10.1186/s13024-025-00804-5.
Gastrointestinal (GI) involvement in Lewy body diseases (LBDs) has been observed since the initial descriptions of patients by James Parkinson. Recent experimental and human observational studies raise the possibility that pathogenic alpha-synuclein (⍺-syn) might develop in the GI tract and subsequently spread to susceptible brain regions. The cellular and mechanistic origins of ⍺-syn propagation in disease are under intense investigation. Experimental LBD models have implicated important contributions from the intrinsic gut microbiome, the intestinal immune system, and environmental toxicants, acting as triggers and modifiers to GI pathologies. Here, we review the primary clinical observations that link GI dysfunctions to LBDs. We first provide an overview of GI anatomy and the cellular repertoire relevant for disease, with a focus on luminal-sensing cells of the intestinal epithelium including enteroendocrine cells that express ⍺-syn and make direct contact with nerves. We describe interactions within the GI tract with resident microbes and exogenous toxicants, and how these may directly contribute to ⍺-syn pathology along with related metabolic and immunological responses. Finally, critical knowledge gaps in the field are highlighted, focusing on pivotal questions that remain some 200 years after the first descriptions of GI tract dysfunction in LBDs. We predict that a better understanding of how pathophysiologies in the gut influence disease risk and progression will accelerate discoveries that will lead to a deeper overall mechanistic understanding of disease and potential therapeutic strategies targeting the gut-brain axis to delay, arrest, or prevent disease progression.
自詹姆斯·帕金森首次描述帕金森病患者以来,人们就观察到路易体病(LBDs)存在胃肠道(GI)受累情况。最近的实验和人体观察研究提出了一种可能性,即致病性α-突触核蛋白(⍺-syn)可能在胃肠道中产生,随后扩散到易感脑区。疾病中⍺-syn传播的细胞和机制起源正在深入研究中。实验性LBD模型表明,肠道固有微生物群、肠道免疫系统和环境毒物起了重要作用,它们是胃肠道病理的触发因素和调节因素。在这里,我们回顾了将胃肠功能障碍与LBDs联系起来的主要临床观察结果。我们首先概述胃肠道解剖结构和与疾病相关的细胞组成,重点关注肠道上皮的腔内传感细胞,包括表达⍺-syn并与神经直接接触的肠内分泌细胞。我们描述了胃肠道内与常驻微生物和外源性毒物的相互作用,以及这些相互作用如何与相关的代谢和免疫反应一起直接导致⍺-syn病理变化。最后,强调了该领域关键的知识空白,重点关注自首次描述LBDs胃肠道功能障碍约200年后仍然存在的关键问题。我们预测,更好地理解肠道病理生理学如何影响疾病风险和进展,将加速相关发现,从而更深入地全面理解疾病机制,并发现针对肠-脑轴的潜在治疗策略,以延缓、阻止或预防疾病进展。