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

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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… Click to show full 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.

Keywords: endometriosis; genome deletion; deletion accurately; deletion; mitochondrial genome; novel mitochondrial

Journal Title: Biomarkers in medicine
Year Published: 2019

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