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. 2022 Dec 23;82(5):658–669. doi: 10.1136/ard-2022-223469

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© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

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A dysregulated mitochondrial gene signature characterises CD14+ monocytes from JDM patients. Transcriptomic analysis of CD4+, CD8+, CD19+ and CD14+ cells from JDM patients taken pretreatment (n=10) and ~12 months on-treatment (n=11), and age-matched healthy controls (controls, n=4). (A) Numbers of differentially expressed genes (DEG) within each cell type between JDM pretreatment versus control, on-treatment versus control and pretreatment versus on-treatment. (B) Venn diagram showing the overlap of significantly DEG from CD14+ monocytes between JDM pretreatment versus control, on-treatment versus control and pretreatment versus on-treatment. (C) Word cloud representation of gene ontology analysis of CD14+ monocytes in JDM patients on-treatment compared with controls. (D) Heatmap representing overexpression and underexpression of genes within the ‘mitochondrion’ gene ontology (GO) term. Asterisk indicate significant differential expression. (E) Negative correlation of IFN type 1 score (15 known IFN type 1—stimulated genes) with all 13 mitochondrially encoded genes (protein coding); analysis in JDM patients pretreatment and on-treatment compared with controls. IFN scores against mitochondrial scores are displayed for all samples, but Spearman correlation coefficient and p value shown are for pretreatment JDM samples. JDM, juvenile dermatomyositis.