A novel 8.7-kb mitochondrial genome deletion accurately detects endometriosis in the plasma of symptomatic women

Harbottle A, Andrew Harbottle, Andrea Maggrah, Maggrah A, Usher R, Robert Usher, Desa E, Elise Desa, Jennifer M Creed, Creed JM, Jennifer Creed
Biomarkers in medicine · 2019 · vol. 14(2) , pp. 97–107 · doi:10.2217/bmm-2019-0451 · PMID:31782670 · W2990725480
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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 Sequence Deletion Adult Adult DNA, Mitochondrial DNA, Mitochondrial Endometriosis Endometriosis Endometriosis Endometriosis Female Female Genome, Mitochondrial Genome, Mitochondrial High-Throughput Nucleotide Sequencing High-Throughput Nucleotide Sequencing Humans

Citation neighborhood (2-hop)

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. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

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Cited by (2)

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