A Novel 8.7-Kb Mitochondrial Genome Deletion Accurately Detects Endometriosis in the Plasma of Symptomatic Women

Andrew Harbottle, Andrea Maggrah, Robert Usher, Elise Desa, Jennifer Creed, Jennifer M Creed
Biomarkers in medicine · 2019 · vol. 14(2) , pp. 97–107 · doi:10.2217/bmm-2019-0451 · PMID:31782670 · W2990725480
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

An 8.7-kb mitochondrial DNA deletion in plasma accurately differentiates women with endometriosis from controls, regardless of age, hormone status, or menstrual phase.

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Abstract

Aim: To evaluate an 8.7-kb mitochondrial DNA (mtDNA) deletion as a potential biomarker of endometriosis. Materials & methods: We tested the diagnostic accuracy of the 8.7-kb deletion real-time PCR assay using 182 prospectively collected blood samples from females presenting with symptoms of endometriosis in a case–control format. Results: The assay differentiated between endometriosis and controls (area under curve: 0.74–0.89) with a statistically significant difference (p < 0.05) in 8.7-kb deletion levels measured for all disease subtypes and stages. No correlation was seen between 8.7-kb deletion levels and participant or specimen age, hormone status or menstrual phase. Conclusion: The diagnostic accuracy of the 8.7-kb deletion for endometriosis suggests potential utility in the clinic to improve patient management.

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Condition tags

endometriosis

MeSH descriptors

DNA, Mitochondrial Endometriosis Genome, Mitochondrial Sequence Deletion Adult DNA, Mitochondrial Endometriosis Endometriosis Endometriosis Female Genome, Mitochondrial High-Throughput Nucleotide Sequencing Humans Polymerase Chain Reaction Prospective Studies Sensitivity and Specificity

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.

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