Lall Deepti, Workman Michael J, Sances Samuel, Ondatje Briana N, Bell Shaughn, Lawless George, Woodbury Amanda, West Dylan, Meyer Amanda, Matlock Andrea, Vaibhav Vineet, Van Eyk Jennifer E, Svendsen Clive N
Cedars-Sinai Board of Governors Regenerative Medicine Institute, Los Angeles, CA, USA.
Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Cell Stem Cell. 2025 Jul 3;32(7):1139-1153.e7. doi: 10.1016/j.stem.2025.05.015. Epub 2025 Jun 24.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder in which motor neurons (MNs) of the brain and spinal cord degenerate, leading to paralysis. Generating MNs from patient-specific induced pluripotent stem cells (iPSCs) may help elucidate early stages of disease. Here, we combined MNs from patients with early-onset disease with brain microvascular endothelial-like cells in a microfluidic device we termed spinal cord chips (SC-chips) and added media flow, which enhanced neuronal maturation and improved cellular health. Bulk transcriptomic and proteomic analyses of SC-chips revealed differences between control and ALS samples, including increased levels of neurofilaments. Single-nuclei RNA sequencing revealed the presence of two MN subpopulations and an ALS-specific dysregulation of glutamatergic and synaptic signaling. This ALS SC-chip model generates a diversity of mature MNs to better understand ALS pathology in a model that has an active blood-brain barrier-like system for future drug screening.
肌萎缩侧索硬化症(ALS)是一种致命的神经退行性疾病,其中脑和脊髓的运动神经元(MNs)退化,导致瘫痪。从患者特异性诱导多能干细胞(iPSCs)生成运动神经元可能有助于阐明疾病的早期阶段。在这里,我们将早发性疾病患者的运动神经元与脑微血管内皮样细胞在一种我们称为脊髓芯片(SC芯片)的微流控装置中结合,并添加了介质流,这增强了神经元成熟并改善了细胞健康。对SC芯片的大量转录组学和蛋白质组学分析揭示了对照样本和ALS样本之间的差异,包括神经丝水平的增加。单核RNA测序揭示了两个运动神经元亚群的存在以及谷氨酸能和突触信号传导的ALS特异性失调。这种ALS SC芯片模型生成了多种成熟的运动神经元,以便在具有类似血脑屏障活性系统的模型中更好地理解ALS病理学,用于未来的药物筛选。