A single-cell transcriptomic atlas of immune cells in Wilson disease identifies copper-specific immune regulation

作者：Shuya Wang, Xianlei Sun, Qingxuan Xin, Jianxiang Shi, Jin Li, Huilin Zhang, Mengjiao Xue, Fanxiang Yin, Zan Qiu, Xiaoqian Wang, Nannan Sun, Yingmei Li, Yaoyao Chen, Liyan Fu, Chaoqi Li, Shaohua Yan, Xian Zhao, Bolin Jue, Yanxia Gao, Baohong Yue, Bo Qin, Yong Jiang, Rongqun Guo · 发表于：iScience · 年份：2025 · DOI：10.1016/j.isci.2025.112450 · 被引用次数：3 · 研究领域：Trace Elements in Health、Extraction and Separation Processes、Heavy Metal Exposure and Toxicity

monocytes. We found that the antigen processing-related pathway is dysregulated in immune cells of patients with WD. Our study revealed that abnormal copper concentration influences the expression of HLA-I and HLA-II molecules. It is noteworthy that a high concentration of intracellular copper differs significantly from the high concentration of extracellular copper. We have also identified a gene set of neurologic abnormalities, which were dysregulated in PBMCs of patients with WD. We also observed abnormal expression of cuproptosis-associated genes in proliferating or malignant cells, providing new insights into the application of cuproptosis in cancer treatment.