Department of Immunology and Microbiology, School of Life Sciences, Southern University of Science and Technology, 518055, Shenzhen, Guangdong, China.
Shanghai Institute for Advanced Study, Institute of Quantitative Biology, College of Life Sciences, Zhejiang University, 310027, Hangzhou, China.
Nat Commun. 2023 Apr 8;14(1):1978. doi: 10.1038/s41467-023-37741-0.
Dysregulation of polyamine homeostasis strongly associates with human diseases. ATP13A2, which is mutated in juvenile-onset Parkinson's disease and autosomal recessive spastic paraplegia 78, is a transporter with a critical role in balancing the polyamine concentration between the lysosome and the cytosol. Here, to better understand human ATP13A2-mediated polyamine transport, we use single-particle cryo-electron microscopy to solve high-resolution structures of human ATP13A2 in six intermediate states, including the putative E2 structure for the P5 subfamily of the P-type ATPases. These structures comprise a nearly complete conformational cycle spanning the polyamine transport process and capture multiple substrate binding sites distributed along the transmembrane regions, suggesting a potential polyamine transport pathway. Integration of high-resolution structures, biochemical assays, and molecular dynamics simulations allows us to obtain a better understanding of the structural basis of how hATP13A2 transports polyamines, providing a mechanistic framework for ATP13A2-related diseases.
多胺稳态失调与人类疾病密切相关。ATP13A2 是一种在青少年型帕金森病和常染色体隐性痉挛性截瘫 78 中发生突变的转运蛋白,在平衡溶酶体和细胞质中多胺浓度方面发挥着关键作用。在这里,为了更好地理解人类 ATP13A2 介导的多胺转运,我们使用单颗粒冷冻电镜技术解决了六个中间状态下的人源 ATP13A2 的高分辨率结构,包括 P 型 ATP 酶 P5 亚家族的假定 E2 结构。这些结构包含一个几乎完整的构象循环,跨越多胺转运过程,并捕获沿跨膜区域分布的多个底物结合位点,提示了一种潜在的多胺转运途径。高分辨率结构、生化测定和分子动力学模拟的整合使我们能够更好地理解 hATP13A2 转运多胺的结构基础,为 ATP13A2 相关疾病提供了一个机制框架。