Circulating mitochondrial DNA copy numbers represent a sensitive marker for diagnosis and monitoring of disease activity in systemic lupus erythematosus

ObjectivesCell-free DNA is involved in the pathogenesis of systemic lupus erythematosus (SLE) but the clinical value of cell-free DNA measurements in SLE is unknown. Our aim was therefore to examine the utility of mitochondrial (mt) DNA and nuclear (n) DNA quantification in SLE.MethodsEDTA plasma wa...

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Published in:Rheumatic & musculoskeletal diseases open 2021-12, Vol.7 (3), p.e002010
Main Authors: Giaglis, Stavros, Daoudlarian, Douglas, Voll, Reinhard E, Kyburz, Diego, Venhoff, Nils, Walker, Ulrich A
Format: Article
Language:English
Subjects:
autoimmune diseases
Biomarkers
Blood & organ donations
Blood platelets
Case-Control Studies
Clinical medicine
Creatinine
Disease
DNA Copy Number Variations - genetics
DNA, Mitochondrial - genetics
Humans
inflammation
Lupus
lupus erythematosus
Lupus Erythematosus, Systemic - diagnosis
Lupus Erythematosus, Systemic - genetics
Mitochondrial DNA
Pathogenesis
Patients
Plasma
Regression analysis
Rheumatology
Software
Statistical analysis
systemic
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Summary:ObjectivesCell-free DNA is involved in the pathogenesis of systemic lupus erythematosus (SLE) but the clinical value of cell-free DNA measurements in SLE is unknown. Our aim was therefore to examine the utility of mitochondrial (mt) DNA and nuclear (n) DNA quantification in SLE.MethodsEDTA plasma was drawn from 103 consecutive patients with SLE and from 56 healthy blood donors. mtDNA and nDNA copy numbers were quantified by PCR from cell-free plasma. Clinical parameters were recorded prospectively.ResultsCirculating mtDNA copy numbers were increased 8.8-fold in the plasma of patients with SLE (median 6.6×107 /mL) compared with controls (median 7.6×106 /mL, p
ISSN:2056-5933
2056-5933
DOI:10.1136/rmdopen-2021-002010