Investigation of the biomarker potential of extracellular mitochondrial and nuclear DNA in Familial Mediterranean Fever patients

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Satkın N. B., Çiçek E.

4th International Istanbul Congress of Health Sciences, İstanbul, Türkiye, 12 - 13 Aralık 2025, ss.53, (Özet Bildiri)

  • Yayın Türü: Bildiri / Özet Bildiri
  • Basıldığı Şehir: İstanbul
  • Basıldığı Ülke: Türkiye
  • Sayfa Sayıları: ss.53
  • Trakya Üniversitesi Adresli: Evet

Özet

Purpose: Familial Mediterranean Fever (FMF) is characterized by recurrent fever and serositis attacks, exhibiting a lifelong clinical course of inflammatory activity episodes followed by remission. While classical acute-phase reactants are primarily used for monitoring disease activity, the potential of extracellular nuclear DNA (cf-ncDNA) and mitochondrial DNA (cf-mtDNA) as next-generation inflammation biomarkers is gaining increasing interest. This prototype study involving 10 patients aimed to compare plasma levels of cf-ncDNA and cf-mtDNA, and the ratios between these two fractions, during attack and remission periods in FMF patients. Methods: Blood samples collected during the attack and remission phases were processed by double centrifugation for plasma separation. Extracellular nucleic acids were isolated using commercial kits, and quantitative PCR was performed targeting the cf-ncDNA (GADPH) and cf-mtDNA (ATP6) regions. Individual patient profiles were compared across clinical phases. Results: Preliminary data from 10 patients, although limited by small sample size, suggest that cf-mtDNA levels during attacks may be higher than in the control group. Furthermore, the majority of cases showed a trend of increased mtDNA in the remission-atack comparison. However, due to inter-individual variability, these findings require validation in larger patient cohorts. Conclusion: This study demonstrates dynamic changes in cf-ncDNA and cf-mtDNA levels between FMF attack and remission phases, suggesting inflammation alters extracellular DNA composition. While these preliminary findings indicate cf-DNA's potential as an inflammatory biomarker in FMF, the limited sample size necessitates larger prospective studies to validate its clinical utility and establish reliable cutoff values for disease monitoring. Keywords: Biomarkers, Cell-free DNA (cf-DNA), Familial Mediterranean Fever (FMF)