Pediatric rheumatology

UBE2D1 as a key biomarker in systemic juvenile idiopathic arthritis: a new perspective on diagnosis and disease activity assessment

Arthritis Res TherPublished Mechanistic study

Authors' conclusion

Our findings provide insights into the biological mechanisms of sJIA, indicating that UBE2D1, which is highly expressed in monocytes, may represent a candidate biomarker for early diagnosis and a potential method for clinical treatment strategies, pending further validation.

Study context

Population
Chinese systemic Juvenile Idiopathic Arthritis (sJIA) cohort
Methodological detailsscRNA-seq and Bulk RNA-seq on PBMCs, in vitro validation
  • scRNA-seq and Bulk RNA-seq on PBMCs
  • In vitro validation

Main finding

As reported in the abstract

  • UBE2D1 expression closely related to disease activity levels, specifically in classical monocytes from sJIA patients
  • Functional enrichment suggested UBE2D1 could enhance disease progression by activating NLRs
  • Significant reduction in UBE2D1 expression and monocyte numbers before and after treatment (follow-up data)
  • Pseudotime analysis: UBE2D1 expression initially high during monocyte development
  • Western blot: increased UBE2D1 and NLRs marker proteins, decreased upon UBE2N and NF-κB inhibitors
  • Co-IP suggested UBE2D1 mediates NLRs pathway activation by interacting with IKB-α
  • UBE2D1 complication map: might contribute to diseases across 17 different systems, incl. autoimmune, digestive and ocular conditions

Original publication

UBE2D1 as a key biomarker in systemic juvenile idiopathic arthritis: a new perspective on diagnosis and disease activity assessment. Arthritis Res Ther. Published 9 July 2025. doi:10.1186/s13075-025-03606-8

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