Mitochondrial Dna Deletions Accurately Detect Endometriosis in Symptomatic Females of Child-Bearing Age

Jennifer Creed, Andrea Maggrah, Brian Reguly, Andrew Harbottle
Biomarkers in medicine · 2019 · vol. 13(4) , pp. 291–306 · doi:10.2217/bmm-2018-0419 · PMID:30642196 · W2910510178
article OA: hybrid CC0 ⤵ 18 in-corpus citations
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Mitochondrial DNA deletions (1.2 and 3.7 kb) in blood accurately differentiated endometriosis from controls across all disease subtypes and stages, offering potential diagnostic biomarkers.

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Abstract

AIM: Accurate noninvasive diagnostic aids for endometriosis are needed. We evaluated mitochondrial DNA deletions as potential biomarkers for endometriosis. METHODS: The diagnostic accuracy of deletions was evaluated by quantitative polymerase chain reaction (QPCR) using well-characterized clinical specimens from all subtypes and stages of endometriosis in a case-control format (n = 182). RESULTS: Deletions (1.2 and 3.7 kb) detected in blood differentiated between endometriosis and controls (area under the curve [AUC] 0.71-0.90). Differences in deletion levels were statistically significant (p < 0.05) for all disease subtypes and stages. Neither deletion was correlated with patient or specimen age or hormone status. The 1.2 kb deletion was not correlated with menstrual stage; the 3.7 kb deletion was significantly correlated between two of the groups. CONCLUSION: Biomarkers of the mitochondrial genome, including the deletions described here, offer a promising and largely unexplored avenue in the pursuit of diagnostic markers for endometriosis that can be effectively translated to clinical application.

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Condition tags

endometriosis

MeSH descriptors

DNA, Mitochondrial Endometriosis Endometriosis Sequence Deletion Adult Area Under Curve Case-Control Studies DNA, Mitochondrial Endometriosis Female Follow-Up Studies Humans Prognosis Prospective Studies ROC Curve

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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