Cortes Constanza J, La Spada Albert R
Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA; Department of Cellular & Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA; Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Sanford Consortium for Regenerative Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA; Department of Cellular & Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA; Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Sanford Consortium for Regenerative Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Hospital, San Diego, CA 92123, USA.
Drug Discov Today. 2014 Jul;19(7):963-71. doi: 10.1016/j.drudis.2014.02.014. Epub 2014 Mar 13.
Autophagy is the cellular process by which proteins, macromolecules, and organelles are targeted to and degraded by the lysosome. Given that neurodegenerative diseases involve the production of misfolded proteins that cannot be degraded by the protein quality-control systems of the cell, the autophagy pathway is now the focus of intense scrutiny, because autophagy is primarily responsible for maintaining normal cellular proteostasis in the central nervous system (CNS). Huntington's disease (HD) is an inherited CAG-polyglutamine repeat disorder, resulting from the production and accumulation of misfolded huntingtin (Htt) protein. HD shares key features with common neurodegenerative disorders, such as Alzheimer's disease (AD) and Parkinson's disease (PD) and, thus, belongs to a large class of disorders known as neurodegenerative proteinopathies. Multiple independent lines of research have documented alterations in autophagy function in HD, and numerous studies have demonstrated a potential role for autophagy modulation as a therapeutic intervention. In this review, we consider the evidence for autophagy dysfunction in HD, and delineate different targets and mechanistic pathways that might account for the autophagy abnormalities detected in HD. We assess the utility of autophagy modulation as a treatment modality in HD, and suggest guidelines and caveats for future therapy development directed at the autophagy pathway in HD and related disorders.
自噬是一种细胞过程,通过该过程蛋白质、大分子和细胞器被靶向运输至溶酶体并被其降解。鉴于神经退行性疾病涉及细胞蛋白质质量控制系统无法降解的错误折叠蛋白的产生,自噬途径目前成为了深入研究的焦点,因为自噬主要负责维持中枢神经系统(CNS)的正常细胞蛋白质稳态。亨廷顿舞蹈症(HD)是一种遗传性CAG-聚谷氨酰胺重复序列疾病,由错误折叠的亨廷顿蛋白(Htt)的产生和积累所致。HD与常见神经退行性疾病如阿尔茨海默病(AD)和帕金森病(PD)具有关键特征,因此属于一大类被称为神经退行性蛋白病的疾病。多项独立研究表明HD中自噬功能存在改变,并且大量研究证明自噬调节作为一种治疗干预具有潜在作用。在本综述中,我们考虑HD中自噬功能障碍的证据,并描述可能解释HD中检测到的自噬异常的不同靶点和机制途径。我们评估自噬调节作为HD治疗方式的效用,并为未来针对HD及相关疾病的自噬途径的治疗开发提出指导方针和注意事项。