Erin M. Wilfong, Lindsay E Bass, Leslie J. Crofford, Rachel H. Bonami, The MYSTIC Investigators
Introduction: The diagnostic value of autoantibodies together with the clinical utility of B cell-depleting therapies (e.g., rituximab) highlight a pathologic role for B cells in antisynthetase syndrome (ASyS). Mainstays of therapy however rely on broadly immunosuppressive agents, which often lead to incomplete treatment response. We therefore set out to identify dysregulated pathways in ASyS as novel therapeutic targets. Methods: Peripheral blood mononuclear nuclear cells were isolated from ASyS and healthy participants. Single-cell RNA sequencing was performed on flow sorted CD19+ cells, followed by differential gene expression and pathway analysis. Results: ASyS patients upregulated pathways related to either interferon or cellular stress (activated B cells) and interferon, actin, or chemical stress (memory B cells), with increased reactive oxygen species identified in several memory B cell subsets in ASyS participants. The frequency of memory B cells expressing the stress response gene, FKBP5 or lipid membrane raft organization gene, MYADM was higher in ASyS patients versus healthy controls. Pathway analysis of these memory subsets showed altered actin/cytoskeleton rearrangement, cellular stress response, and cellular metabolism (FKBP5+ memory) and altered antigen processing/presentation, cellular adhesion, and cell homing (MYADM+ memory) in ASyS. Discussion: Overall, our data identify novel and known gene expression changes within activated and memory B cells. These data implicate activated and memory B cell rewiring in ASyS that may support their ability to act as antigen-presenting cells. Future studies will be required to validate these findings and probe their utility as new targets to limit tissue damage in ASyS.