Podolak Amira, Liss Joanna, Kiewisz Jolanta, Pukszta Sebastian, Cybulska Celina, Rychlowski Michal, Lukaszuk Aron, Jakiel Grzegorz, Lukaszuk Krzysztof
Invicta Research and Development Center, 81-740 Sopot, Poland.
Department of Medical Biology and Genetics, University of Gdansk, 80-308 Gdansk, Poland.
Curr Issues Mol Biol. 2022 Jan 9;44(1):273-287. doi: 10.3390/cimb44010020.
A retrospective case control study was undertaken at the molecular biology department of a private center for reproductive medicine in order to determine whether any correlation exists between mitochondrial DNA (mtDNA) content of cleavage-stage preimplantation embryos and their developmental potential. A total of 69 couples underwent IVF treatment (averaged women age: 36.5, SD 4.9) and produced a total of 314 embryos. A single blastomere was biopsied from each embryo at the cleavage stage (day-3 post-fertilization) subjected to low-pass next generation sequencing (NGS), for the purpose of detecting aneuploidy. For each sample, the number of mtDNA reads obtained after analysis using NGS was divided by the number of reads attributable to the nuclear genome. The mtDNA copy number amount was found to be higher in aneuploid embryos than in those that were euploid (mean mtDNA ratio ± SD: 6.3 ± 7.5 versus 7.1 ± 5.8, p < 0.004; U Mann−Whitney test), whereas no statistically significant differences in mtDNA content were seen in relation to embryo morphology (6.6 ± 4.8 vs. 8.5 ± 13.6, p 0.09), sex (6.6 ± 4.1 vs. 6.2 ± 6.8, p 0.16), maternal age (6.9 ± 7.8 vs. 6.7 ± 4.5, p 0.14) or its ability to implant (7.4 ± 6.6 vs. 5.1 ± 4.6, p 0.18). The mtDNA content cannot serve as a useful biomarker at this point in development. However, further studies investigating both quantitative and qualitative aspects of mtDNA are still required to fully evaluate the relationship between mitochondrial DNA and human reproduction.
在一家私立生殖医学中心的分子生物学部门进行了一项回顾性病例对照研究，以确定卵裂期植入前胚胎的线粒体DNA（mtDNA）含量与其发育潜力之间是否存在任何相关性。共有69对夫妇接受了体外受精治疗（女性平均年龄：36.5岁，标准差4.9岁），共产生了314个胚胎。在卵裂期（受精后第3天）从每个胚胎中活检一个卵裂球，进行低通量下一代测序（NGS），以检测非整倍体。对于每个样本，使用NGS分析后获得的mtDNA读数数量除以可归因于核基因组的读数数量。发现非整倍体胚胎中的mtDNA拷贝数比整倍体胚胎中的更高（平均mtDNA比率±标准差：6.3±7.5对7.1±5.8，p<0.004；U曼-惠特尼检验），而在mtDNA含量方面，与胚胎形态（6.6±4.8对8.5±13.6，p=0.09）、性别（6.6±4.1对6.2±6.8，p=0.16）、母亲年龄（6.9±7.8对6.7±4.5，p=0.14）或其着床能力（7.4±6.6对5.1±4.6，p=0.18）均未观察到统计学上的显著差异。在发育的这个阶段，mtDNA含量不能作为一个有用的生物标志物。然而，仍需要进一步研究mtDNA的定量和定性方面，以全面评估线粒体DNA与人类生殖之间的关系。
