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

ABSTRACT: Wilson disease (WD) is caused by mutations of the copper-transporting gene, ATP7B, leading to abnormal copper metabolism. A better characterization of WD is essential in understanding the effects of excess copper and how it disrupts immune regulation and hematopoietic development. Furthermore, the exploration of the relationship between copper-mediated proliferation or cuproptosis and immune regulation is critical for developing new immune therapies. Therefore, we performed single-cell RNA sequencing (scRNA-seq) on peripheral blood mononuclear cells (PBMCs) to develop an atlas of the immune landscape. Cells were clustered into several immune subsets, and cuproptosis-associated genes were assessed. Differential expression analysis was performed to identify WD-specific signatures by c

SUBMITTER: Wang S 

PROVIDER: S-EPMC12084004 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature