Environmental and Life Sciences Graduate Program, Trent University, Peterborough, Ontario, Canada.
Environmental and Life Sciences Graduate Program, Trent University, Peterborough, Ontario, Canada; Department of Biology, Trent University, Peterborough, Ontario, Canada.
Eur J Cell Biol. 2023 Jun;102(2):151305. doi: 10.1016/j.ejcb.2023.151305. Epub 2023 Mar 9.
The neuronal ceroid lipofuscinoses (NCLs), collectively referred to as Batten disease, are a group of fatal neurodegenerative disorders that primarily affect children. The etiology of Batten disease is linked to mutations in 13 genes that encode distinct CLN proteins, whose functions have yet to be fully elucidated. The social amoeba Dictyostelium discoideum has been adopted as an efficient and powerful model system for studying the diverse cellular roles of CLN proteins. The genome of D. discoideum encodes several homologs of human CLN proteins, and a growing body of literature supports the conserved roles and networking of CLN proteins in D. discoideum and humans. In humans, CLN proteins have diverse cellular roles related to autophagy, signal transduction, lipid homeostasis, lysosomal ion homeostasis, and intracellular trafficking. Recent work also indicates that CLN proteins play an important role in protein secretion. Remarkably, many of these findings have found parallels in studies with D. discoideum. Accordingly, this review will highlight the translatable value of novel work with D. discoideum in the field of NCL research and propose further avenues of research using this biomedical model organism for studying the NCLs.
神经元蜡样质脂褐质沉积症(NCLs),统称为巴滕病,是一组主要影响儿童的致命神经退行性疾病。巴滕病的病因与编码不同 CLN 蛋白的 13 个基因的突变有关,但其功能尚未完全阐明。社会变形虫盘基网柄菌已被采用为研究 CLN 蛋白的多种细胞作用的有效和强大的模型系统。D. discoideum 的基因组编码几种人类 CLN 蛋白的同源物,越来越多的文献支持 CLN 蛋白在 D. discoideum 和人类中的保守作用和网络。在人类中,CLN 蛋白具有与自噬、信号转导、脂质稳态、溶酶体离子稳态和细胞内运输相关的多种细胞作用。最近的工作还表明,CLN 蛋白在蛋白质分泌中起着重要作用。值得注意的是,许多这些发现与 D. discoideum 的研究中发现的相似。因此,本综述将重点介绍 D. discoideum 的新工作在 NCL 研究领域的可转化价值,并提出使用这种生物医学模式生物进一步研究 NCL 的研究途径。