Systemic sclerosis & Raynaud's
Reduced digestion of circulating genomic DNA in systemic sclerosis patients with the DNASE1L3 R206C variant
Authors' conclusion
Our results confirm that circulating gDNA is a physiological DNASE1L3 substrate and show that its digestion is reduced in SSc patients with the DNASE1L3 R206C variant.
Study context
- Population
- SSc patients and healthy controls (HCs)123 SSc patients and 74 HCs
- Comparison
- SSc patients and HCs with DNASE1L3 R206C vs R206 wild type
- Outcome
- Digestion of circulating gDNA (ratio of long: short gDNA fragments in plasma)
Methodological detailsin vitro, transfected cell line, primary monocyte-derived dendritic cells
- In vitro
- Transfected cell line
- Primary monocyte-derived dendritic cells
Main finding
As reported in the abstract
- The unique ability of DNASE1L3 to digest AdMV-associated genomic DNA (gDNA) was confirmed
- Extracellular secretion of DNASE1L3 R206C was impaired
- Plasma from individuals with DNASE1L3 R206C had reduced ability to digest AdMV-associated gDNA
- Ratio of long: short gDNA fragments increased in plasma from SSc patients with DNASE1L3 R206C; ratio correlated inversely with DNase activity
Original publication
Reduced digestion of circulating genomic DNA in systemic sclerosis patients with the DNASE1L3 R206C variant. Rheumatology (Oxford). Published 27 January 2023. doi:10.
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