Associations of mitochondrial DNA copy number and deletion rate with early pregnancy loss

•The roles of mtDNA CN and 4977-bp DR in EPL were investigated.•CV tissues from EPL cases showed higher mtDNA CN and 4977-bp DR than controls.•In EPL group, higher mtDNA CN in ART embryos was observed compared with NC embryos.•Higher mtDNA CN and 4977-bp DR levels represent independent risk factors...

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Published in:Mitochondrion 2020-11, Vol.55, p.48-53
Main Authors: Ye, Mujin, Shi, Weihui, Hao, Yanhui, Zhang, Lanlan, Chen, Songchang, Wang, Liya, He, Xiaoying, Li, Shuyuan, Xu, Chenming
Format: Article
Language:English
Subjects:
Abortion, Spontaneous - genetics
Adult
Case-Control Studies
Chorionic Villi - chemistry
Chorionic villous tissue
DNA Copy Number Variations
DNA, Mitochondrial - genetics
Early pregnancy loss
Female
Genetic Association Studies
Gestational Age
Humans
Logistic Models
Maternal Age
Mitochondrial copy number
Mitochondrial deletion
Pregnancy
Sequence Analysis, DNA
Sequence Deletion
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Summary:•The roles of mtDNA CN and 4977-bp DR in EPL were investigated.•CV tissues from EPL cases showed higher mtDNA CN and 4977-bp DR than controls.•In EPL group, higher mtDNA CN in ART embryos was observed compared with NC embryos.•Higher mtDNA CN and 4977-bp DR levels represent independent risk factors for EPL. Early pregnancy loss (EPL) is a common event worldwide. Previous studies show that mitochondrial DNA (mtDNA) copy number (CN) is associated with 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 
ISSN:1567-7249
1872-8278
DOI:10.1016/j.mito.2020.07.006