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Associations of mitochondrial DNA copy number and deletion rate with early pregnancy loss
Mitochondrion ( IF 4.4 ) Pub Date : 2020-11-01 , DOI: 10.1016/j.mito.2020.07.006
Mujin Ye 1 , Weihui Shi 1 , Yanhui Hao 1 , Lanlan Zhang 1 , Songchang Chen 1 , Liya Wang 2 , Xiaoying He 2 , Shuyuan Li 1 , Chenming Xu 1
Affiliation  

Early pregnancy loss (EPL) is a common event worldwide. Previous studies show that mitochondrial DNA (mtDNA) copy number (CN) is associated with poor semen parameters and preimplantation embryo viability, indicating the predictive potential of mtDNA CN for ongoing pregnancy outcomes. However, no relevant study has assessed the relationship between mtDNA CN and EPL. Thus, we aimed to determine whether mtDNA CN and mtDNA 4977-bp deletion rate (DR) in chorionic villous tissue are associated with EPL. Chorionic villous tissue total DNA was extracted from 75 EPL cases and 75 healthy controls. Chromosomal analysis was conducted using copy number variation (CNV) sequencing. The mtDNA CN and DR were measured in samples without pathogenic CNVs. The association between mtDNA CN or DR and EPL risk were estimated using logistic regression. The EPL group had a significantly different mtDNA CN (P < 0.001) and DR (P = 0.005) compared to the control group. Both biomarkers were independent risk factors for EPL (CN odds ratio 1.71, 95% confidence interval 1.17 to 2.49, P = 0.005; DR odds ratio 1.07, 95% confidence interval 1.02 to 1.12, P = 0.006). These results suggest that higher mtDNA CN and DR levels are strongly associated with EPL and represent independent risk factors for EPL. Further studies validating these findings and exploring the underlying biological mechanisms are warranted.

中文翻译:

线粒体DNA拷贝数和缺失率与早期妊娠丢失的关系

早孕流产 (EPL) 是世界范围内的常见事件。先前的研究表明,线粒体 DNA (mtDNA) 拷贝数 (CN) 与较差的精液参数和植入前胚胎活力有关,表明 mtDNA CN 对持续妊娠结果的预测潜力。然而,没有相关研究评估 mtDNA CN 和 EPL 之间的关系。因此,我们旨在确定绒毛膜绒毛组织中的 mtDNA CN 和 mtDNA 4977-bp 缺失率 (DR) 是否与 EPL 相关。从75个EPL病例和75个健康对照中提取绒毛膜绒毛组织总DNA。使用拷贝数变异 (CNV) 测序进行染色体分析。在没有致病性 CNV 的样本中测量了 mtDNA CN 和 DR。使用逻辑回归估计 mtDNA CN 或 DR 与 EPL 风险之间的关联。与对照组相比,EPL 组的 mtDNA CN (P < 0.001) 和 DR (P = 0.005) 显着不同。两种生物标志物都是 EPL 的独立危险因素(CN 优势比 1.71,95% 置信区间 1.17 至 2.49,P = 0.005;DR 优势比 1.07,95% 置信区间 1.02 至 1.12,P = 0.006)。这些结果表明,较高的 mtDNA CN 和 DR 水平与 EPL 密切相关,并且是 EPL 的独立危险因素。有必要进行进一步的研究来验证这些发现并探索潜在的生物学机制。这些结果表明,较高的 mtDNA CN 和 DR 水平与 EPL 密切相关,并且是 EPL 的独立危险因素。有必要进行进一步的研究来验证这些发现并探索潜在的生物学机制。这些结果表明,较高的 mtDNA CN 和 DR 水平与 EPL 密切相关,并且是 EPL 的独立危险因素。有必要进行进一步的研究来验证这些发现并探索潜在的生物学机制。
更新日期:2020-11-01
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