Open AccessA novel 8.7-kb mitochondrial genome deletion accurately detects endometriosis in the plasma of symptomatic women
Author(s) -
Andrew Harbottle,
Andrea Maggrah,
Robert H. Usher,
Elise Desa,
Jennifer Creed
Publication year - 2020
Publication title -
biomarkers in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.652
H-Index - 44
eISSN - 1752-0371
pISSN - 1752-0363
DOI - 10.2217/bmm-2019-0451
Subject(s) - endometriosis , medicine , mitochondrial dna , biomarker , diagnostic biomarker , disease , diagnostic accuracy , gene , gastroenterology , gynecology , microbiology and biotechnology , andrology , genetics , biology
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.