Effect of deoxyribonuclease I therapy on free circulating DNA level and gene methylation profile changes in patients with endometriosis: Proof of concept and preliminary data

BenKhalifa M, Moncef Benkhalifa, David Piquemal, Piquemal D, Marwa Lahimer, Nadifi C, Chafika Nadifi, Menoud PA, Pierre Alain Menoud, Zarqaoui M, Mohamed Zarqaoui, Cabry R, Rosalie Cabry, LAHLOU FA, Fatima Azzahra Lahlou, Jan Tesarik, Tesarik J
Science progress · 2026 · vol. 109(3) , pp. 368504261479982 · doi:10.1177/00368504261479982 · PMID:42599925 · PMC13477512 · W7203450334
article OA: diamond public-domain-us
📄 Open PDF View on OpenAlex View on PubMed View at publisher

Abstract

ObjectiveEndometriosis is a systemic chronic disease with serious effects on various aspects of female health and wellbeing that has been associated with a significant increase in free circulating DNA (CfDNA) and gene methylation profile changes. Endometriosis is considered a worldwide health problem, affecting approximately 10-12% of women of reproductive age. It is defined as an estrogen-dependent syndrome associated with severe pain and a distinct epigenetic signature. The purpose of this study was to evaluate the effect of deoxyribonuclease (DNase) I therapy on these anomalies.MethodsThis study is a proof-of-concept investigation presenting preliminary data from sixteen patients with endometriosis who were evaluated during infertility consultations. CfDNA extraction, quantification and methylation status tests were performed using commercial kits. DNase I was administered subcutaneously every 2 days for one month, and the pre-treatment and post-treatment CfDNA levels and methylation status, along with the degree of patient discomfort, were compared.ResultsDNase I therapy was associated with a decrease in the overall CfDNA level. Targeted methylation profiles showed exploratory changes in several genes, presented descriptively because no paired inferential reanalysis was performed. Moreover, most patients (15/16) reported a reduction in pain, an improvement in their ability to assume professional activity and fewer sexual function difficulties.ConclusionsThis proof-of-concept study suggests that DNase I therapy may be associated with decreased CfDNA levels and changes in methylation profiles. Patient-reported improvements in pain and quality of life were observed, but they cannot be causally attributed to treatment in the absence of a placebo-controlled design. Further research into the potential use of DNase-based medicine for endometriosis patients involving more participants is warranted.

My notes (saved in your browser only)

MeSH descriptors

Cell-Free Nucleic Acids Cell-Free Nucleic Acids Cell-Free Nucleic Acids Cell-Free Nucleic Acids Cell-Free Nucleic Acids Cell-Free Nucleic Acids Deoxyribonuclease I Deoxyribonuclease I Deoxyribonuclease I Deoxyribonuclease I Deoxyribonuclease I Deoxyribonuclease I Deoxyribonuclease I DNA Methylation DNA Methylation DNA Methylation DNA Methylation DNA Methylation Endometriosis Endometriosis

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (16)

Source provenance

europepmc
last seen: 2026-08-18T06:10:16.649438+00:00
openalex
last seen: 2026-08-18T06:03:38.117434+00:00
pubmed
last seen: 2026-08-18T06:05:14.272252+00:00
License: public-domain-us · commercial use OK · attribution required
Courtesy of the U.S. National Library of Medicine