School of Biomedical Sciences, Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
Essays Biochem. 2021 Dec 22;65(7):987-998. doi: 10.1042/EBC20210023.
To date, mechanistic treatments targeting the initial cause of Parkinson's disease (PD) are limited due to the underlying biological cause(s) been unclear. Endosomes and their associated cellular homeostasis processes have emerged to have a significant role in the pathophysiology associated with PD. Several variants within retromer complex have been identified and characterised within familial PD patients. The retromer complex represents a key sorting platform within the endosomal system that regulates cargo sorting that maintains cellular homeostasis. In this review, we summarise the current understandings of how PD-associated retromer variants disrupt cellular trafficking and how the retromer complex can interact with other PD-associated genes to contribute to the disease progression.
迄今为止，由于帕金森病 (PD) 的根本病因尚不清楚，针对其初始病因的机械治疗方法有限。内体及其相关的细胞内稳态过程在与 PD 相关的病理生理学中起着重要作用。在家族性 PD 患者中已经鉴定和表征了几种内体相关复合物的变体。内体相关复合物是内体系统中的一个关键分拣平台，调节维持细胞内稳态的货物分拣。在这篇综述中，我们总结了目前对内体相关复合物如何破坏细胞运输的理解，以及内体相关复合物如何与其他 PD 相关基因相互作用，从而促进疾病进展。
