Biomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
Program of Cellular and Molecular Biology, Center for Molecular Studies of the Cell, Institute of Biomedical Sciences, University of Chile, Santiago, Chile.
Prog Mol Subcell Biol. 2021;59:239-278. doi: 10.1007/978-3-030-67696-4_12.
Endoplasmic reticulum (ER) stress is a prominent cellular alteration of diseases impacting the nervous system that are associated to the accumulation of misfolded and aggregated protein species during aging. The unfolded protein response (UPR) is the main pathway mediating adaptation to ER stress, but it can also trigger deleterious cascades of inflammation and cell death leading to cell dysfunction and neurodegeneration. Genetic and pharmacological studies in experimental models shed light into molecular pathways possibly contributing to ER stress and the UPR activation in human neuropathies. Most of experimental models are, however, based on the overexpression of mutant proteins causing familial forms of these diseases or the administration of neurotoxins that induce pathology in young animals. Whether the mechanisms uncovered in these models are relevant for the etiology of the vast majority of age-related sporadic forms of neurodegenerative diseases is an open question. Here, we provide a systematic analysis of the current evidence linking ER stress to human pathology and the main mechanisms elucidated in experimental models. Furthermore, we highlight the recent association of metabolic syndrome to increased risk to undergo neurodegeneration, where ER stress arises as a common denominator in the pathogenic crosstalk between peripheral organs and the nervous system.
内质网(ER)应激是影响神经系统疾病的一个显著的细胞改变,与衰老过程中错误折叠和聚集的蛋白质的积累有关。未折叠蛋白反应(UPR)是介导 ER 应激适应的主要途径,但它也可能引发炎症和细胞死亡的有害级联反应,导致细胞功能障碍和神经退行性变。在实验模型中的遗传和药理学研究揭示了可能有助于 ER 应激和 UPR 激活的分子途径在人类神经病变中的作用。然而,大多数实验模型都是基于表达突变蛋白引起这些疾病的家族形式,或者用神经毒素来诱导年轻动物的病理。这些模型中揭示的机制是否与大多数与年龄相关的散发性神经退行性疾病的病因学有关,这是一个悬而未决的问题。在这里,我们系统地分析了将 ER 应激与人类病理学联系起来的现有证据,以及在实验模型中阐明的主要机制。此外,我们强调了代谢综合征与增加神经退行性变风险之间的最新关联,其中 ER 应激作为外周器官和神经系统之间致病串扰的共同因素出现。