García-Salas Raquel, Cilleros-Holgado Paula, Di Spirito Anna, Gómez-Fernández David, Piñero-Pérez Rocío, Romero-Domínguez José Manuel, Álvarez-Córdoba Mónica, Reche-López Diana, Romero-González Ana, López-Cabrera Alejandra, Sánchez-Alcázar José Antonio
Centro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), Sevilla 41013, Spain.
Aging (Albany NY). 2025 Feb 6;17(2):365-392. doi: 10.18632/aging.206198.
Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system (CNS). Despite advancements in managing relapsing active illness, effective treatments for the irreversible progressive decline in MS remain limited. Research employing skin fibroblasts obtained from patients with neurological disorders revealed modifications in cellular stress pathways and bioenergetics. However, research using MS patient-derived cellular models is scarce. In this study, we collected fibroblasts from two MS patients to investigate cellular pathological alterations. We observed that MS fibroblasts showed a senescent morphology associated with iron/lipofuscin accumulation and altered expression of iron metabolism proteins. In addition, we found increased lipid peroxidation and downregulation of antioxidant enzymes expression levels in MS fibroblasts. When challenged against erastin, a ferroptosis inducer, MS fibroblasts showed decreased viability, suggesting increased sensitivity to ferroptosis. Furthermore, MS fibroblasts presented alterations in the expression levels of autophagy-related proteins. Interestingly, these alterations were associated with mitochondrial dysfunction and inflammasome activation. These findings were validated in 7 additional patient-derived cell lines. Our findings suggest that the underlying stress phenotype of MS fibroblasts may be disease-specific and recapitulate the main cellular pathological alterations found in the disease such as mitochondrial dysfunction, iron accumulation, lipid peroxidation, inflammasome activation, and pro-inflammatory cytokine production.
多发性硬化症(MS)是一种中枢神经系统(CNS)的炎症性脱髓鞘疾病。尽管在复发性活动性疾病的管理方面取得了进展,但针对MS中不可逆的进行性衰退的有效治疗方法仍然有限。利用从神经系统疾病患者获取的皮肤成纤维细胞进行的研究揭示了细胞应激途径和生物能量学的改变。然而,使用源自MS患者的细胞模型的研究却很匮乏。在本研究中,我们从两名MS患者身上收集了成纤维细胞,以研究细胞病理改变。我们观察到,MS成纤维细胞呈现出与铁/脂褐素积累相关的衰老形态,并且铁代谢蛋白的表达发生了改变。此外,我们发现MS成纤维细胞中的脂质过氧化增加,抗氧化酶表达水平下调。当用铁死亡诱导剂埃拉斯汀进行刺激时,MS成纤维细胞的活力下降,这表明其对铁死亡的敏感性增加。此外,MS成纤维细胞中自噬相关蛋白的表达水平也出现了改变。有趣的是,这些改变与线粒体功能障碍和炎性小体激活有关。这些发现已在另外7个源自患者的细胞系中得到验证。我们的研究结果表明,MS成纤维细胞潜在的应激表型可能具有疾病特异性,并且概括了该疾病中发现的主要细胞病理改变,如线粒体功能障碍、铁积累、脂质过氧化、炎性小体激活和促炎细胞因子产生。