Mitochondrial DNA deletions accurately detect endometriosis in symptomatic females of child-bearing age

Jennifer Creed, Creed J, Maggrah A, Andrea Maggrah, Reguly B, Brian Reguly, Harbottle A, Andrew Harbottle
Biomarkers in medicine · 2019 · vol. 13(4) , pp. 291–306 · doi:10.2217/bmm-2018-0419 · PMID:30642196 · W2910510178
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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 Sequence Deletion Adult Adult Area Under Curve Area Under Curve Case-Control Studies Case-Control Studies DNA, Mitochondrial DNA, Mitochondrial Endometriosis Endometriosis Female Female Follow-Up Studies Follow-Up Studies 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 ]

References (55)

Cited by (17)

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