Integrated metabolomic profiling identifies citrate as novel diagnostic biomarker for Anti-MDA5-Positive dermatomyositis
Authors' conclusion
Our study underscores the pivotal role of DHEAS and citrate as promising diagnostic biomarkers of IIM and anti-MDA5 + DM, respectively, providing novel insights into the pathogenic mechanism and potential therapeutic targets.
Study context
- Population
- Patients with idiopathic inflammatory myopathy (IIM), including anti-MDA5 + DM, and healthy controls183 IIM patients · 104 healthy controls (HCs)
- Participants
- 67 / 83 / 71
- Comparison
- Anti-MDA5 + DM vs anti-MDA5- IIM vs healthy controls
- Anti-MDA5 + DMn = 67
- Anti-MDA5- IIMn = 83
- HCsn = 71reference
- Outcome
- Differentially expressed metabolites (DEMs) and candidate biomarkers in anti-MDA5 + DM
Methodological detailsmetabolomic profiling, discovery and validation cohorts, non-targeted plasma and targeted PBMC metabolomics, machine learning and LASSO regression, decision curve analysis
- Metabolomic profiling
- Discovery and validation cohorts
- Non-targeted plasma and targeted PBMC metabolomics
- Machine learning and LASSO regression
- Decision curve analysis
Performance
As reported in the abstract
Plasma differentially expressed metabolites (DEMs) distinguishing anti-MDA5 + DM from HCs (65 upregulated, 25 downregulated)
90
PBMC DEMs in anti-MDA5 + DM vs HCs (21 upregulated, 20 downregulated)
41
Further findings
Clinical associations of candidate biomarkers
- Dehydroepiandrosterone sulfate (DHEAS) levels negatively correlated with prevalence of rapidly progressive interstitial lung disease (RP-ILD)
- Citrate negatively associated with rash
- Dimethylglycine positively associated with mortality and RP-ILD
Validation cohort (33 patients, 33 HCs)
- DHEAS and citrate exhibited concordant variation patterns
- DHEAS by enzyme-linked immunosorbent assay (ELISA), citrate by biochemical assay
Original publication
Integrated metabolomic profiling identifies citrate as novel diagnostic biomarker for Anti-MDA5-Positive dermatomyositis. Arthritis Res Ther. Published 17 November 2025. doi:10.
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