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Biomark Med. 2019 Mar;13(4):291-306. doi: 10.2217/bmm-2018-0419. Epub 2019 Jan 15.
Accurate noninvasive diagnostic aids for endometriosis are needed. We evaluated mitochondrial DNA deletions as potential biomarkers for endometriosis.
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).
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.
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.
需要准确的非侵入性诊断辅助方法来诊断子宫内膜异位症。我们评估了线粒体 DNA 缺失作为子宫内膜异位症的潜在生物标志物。
采用定量聚合酶链反应 (QPCR) 方法，使用经过充分特征描述的子宫内膜异位症所有亚型和阶段的临床标本进行病例对照研究（n=182），评估缺失的诊断准确性。
在血液中检测到的缺失（1.2 和 3.7 kb）可区分子宫内膜异位症和对照组（曲线下面积 [AUC] 0.71-0.90）。所有疾病亚型和阶段的缺失水平差异均具有统计学意义（p<0.05）。两种缺失均与患者或标本年龄或激素状态无关。1.2 kb 的缺失与月经周期无关；3.7 kb 的缺失在两组之间呈显著相关性。
线粒体基因组的生物标志物，包括此处描述的缺失，为子宫内膜异位症的诊断标志物的研究提供了一个有前途且尚未得到充分探索的途径，这些标志物有望有效转化为临床应用。
