Scheper Wiep, Hoozemans Jeroen J M
Department of Clinical Genetics and Alzheimer Center, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands.
Acta Neuropathol. 2015 Sep;130(3):315-31. doi: 10.1007/s00401-015-1462-8. Epub 2015 Jul 26.
The unfolded protein response (UPR) is a stress response of the endoplasmic reticulum (ER) to a disturbance in protein folding. The so-called ER stress sensors PERK, IRE1 and ATF6 play a central role in the initiation and regulation of the UPR. The accumulation of misfolded and aggregated proteins is a common characteristic of neurodegenerative diseases. With the discovery of the basic machinery of the UPR, the idea was born that the UPR or part of its machinery could be involved in neurodegenerative diseases like Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis and prion disease. Over the last decade, the UPR has been addressed in an increasing number of studies on neurodegeneration. The involvement of the UPR has been investigated in human neuropathology across different neurological diseases, as well as in cell and mouse models for neurodegeneration. Studies using different disease models display discrepancies on the role and function of the UPR during neurodegeneration, which can often be attributed to differences in methodology. In this review, we will address the importance of investigation of human brain material for the interpretation of the role of the UPR in neurological diseases. We will discuss evidence for UPR activation in neurodegenerative diseases, and the methodology to study UPR activation and its connection to brain pathology will be addressed. More recently, the UPR is recognized as a target for drug therapy for treatment and prevention of neurodegeneration, by inhibiting the function of specific mediators of the UPR. Several preclinical studies have shown a proof-of-concept for this approach targeting the machinery of UPR, in particular the PERK pathway, in different models for neurodegeneration and have yielded paradoxical results. The promises held by these observations will need further support by clarification of the observed differences between disease models, as well as increased insight obtained from human neuropathology.
未折叠蛋白反应(UPR)是内质网(ER)对蛋白质折叠紊乱的应激反应。所谓的内质网应激传感器PERK、IRE1和ATF6在UPR的启动和调节中起核心作用。错误折叠和聚集蛋白的积累是神经退行性疾病的共同特征。随着UPR基本机制的发现,人们提出了UPR或其部分机制可能参与阿尔茨海默病、帕金森病、肌萎缩侧索硬化症和朊病毒病等神经退行性疾病的观点。在过去十年中,越来越多关于神经退行性变的研究涉及到UPR。UPR的参与已在不同神经疾病的人类神经病理学以及神经退行性变的细胞和小鼠模型中进行了研究。使用不同疾病模型的研究在神经退行性变过程中UPR的作用和功能上存在差异,这通常可归因于方法学的不同。在这篇综述中,我们将阐述研究人类脑材料对于解释UPR在神经疾病中作用的重要性。我们将讨论神经退行性疾病中UPR激活的证据,并探讨研究UPR激活及其与脑病理学联系的方法。最近,通过抑制UPR特定介质的功能,UPR被认为是治疗和预防神经退行性变的药物治疗靶点。几项临床前研究已在不同的神经退行性变模型中证明了针对UPR机制,特别是PERK途径的这种方法的概念验证,但也产生了矛盾的结果。这些观察结果所带来的希望需要通过澄清疾病模型之间观察到的差异以及从人类神经病理学中获得更多见解来进一步支持。