Publications by authors named "Daria I Zhigalina"

2 Publications

  • Page 1 of 1

LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy.

J Assist Reprod Genet 2021 Jan 10;38(1):139-149. Epub 2020 Nov 10.

Research Institute of Medical Genetics, Tomsk National Research Medical Center, Nab. R. Ushaiki, 10, Tomsk, Russia.

Purpose: High frequency of aneuploidy in meiosis and cleavage stage coincides with waves of epigenetic genome reprogramming that may indicate a possible association between epigenetic mechanisms and aneuploidy occurrence. This study aimed to assess the methylation level of the long interspersed repeat element 1 (LINE-1) retrotransposon in chorionic villi of first trimester miscarriages with a normal karyotype and aneuploidy.

Methods: The methylation level was assessed at 19 LINE-1 promoter CpG sites in chorionic villi of 141 miscarriages with trisomy of chromosomes 2, 6, 8-10, 13-15, 16, 18, 20-22, and monosomy X using massive parallel sequencing.

Results: The LINE-1 methylation level was elevated statistically significant in chorionic villi of miscarriages with both trisomy (45.2 ± 4.3%) and monosomy X (46.9 ± 4.2%) compared with that in induced abortions (40.0 ± 2.4%) (p < 0.00001). The LINE-1 methylation levels were specific for miscarriages with different aneuploidies and significantly increased in miscarriages with trisomies 8, 14, and 18 and monosomy X (p < 0.05). The LINE-1 methylation level increased with gestational age both for group of miscarriages regardless of karyotype (R = 0.21, p = 0.012) and specifically for miscarriages with trisomy 16 (R = 0.48, p = 0.007). LINE-1 methylation decreased with maternal age in miscarriages with a normal karyotype (R = - 0.31, p = 0.029) and with trisomy 21 (R = - 0.64, p = 0.024) and increased with paternal age for miscarriages with trisomy 16 (R = 0.38, p = 0.048) and monosomy X (R = 0.73, p = 0.003).

Conclusion: Our results indicate that the pathogenic effects of aneuploidy in human embryogenesis can be supplemented with significant epigenetic changes in the repetitive sequences.
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http://dx.doi.org/10.1007/s10815-020-02003-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7823001PMC
January 2021

Karyotype of the blastocoel fluid demonstrates low concordance with both trophectoderm and inner cell mass.

Fertil Steril 2018 06;109(6):1127-1134.e1

Cytogenetics Laboratory, Research Institute of Medical Genetics, Tomsk National Research Medical Center of Russian Academy of Sciences, Tomsk, Russian Federation; Department of Medical Genetics, Siberian State Medical University, Tomsk, Russian Federation.

Objective: To compare the genomic profiles of blastocoel fluid (BF), inner cell mass (ICM), and trophectoderm (TE) cells derived from the same blastocyst.

Design: Prospective study.

Setting: Academic and in vitro fertilization units.

Patient(s): Sixteen donated cryopreserved embryos at blastocyst stage.

Intervention(s): BF, TE, and ICM cells were retrieved from each blastocyst for chromosome analysis by means of next-generation sequencing (NGS).

Main Outcome Measure(s): Aneuploidy screening and assessment of mosaicism in BF, TE and ICM samples with subsequent comparison of genomic profiles between the three blastocyst compartments.

Result(s): Out of 16 blastocysts, 10 BF samples and 14 TE and ICM samples provided reliable NGS data for comprehensive chromosome analysis. Only 40.0% of BF-DNA karyotypes were fully concordant with TE or ICM, compared with 85.7% concordance between TE and ICM. In addition, BF-DNA was burdened with mosaic aneuploidies and the total number of affected chromosomes in BF was significantly higher compared with the TE and ICM.

Conclusion(s): BF-DNA can be successfully amplified and subjected to NGS, but owing to increased discordance with ICM and TE, BF does not adequately represent the status of the rest of the embryo. To overcome biologic and technical challenges associated with BF sampling and processing, blastocentesis would require improvement in both laboratory protocols and aneuploidy calling algorithms. Therefore, TE biopsy remains the most effective way to predict embryonic karyotype, and the use of BF as a single source of DNA for preimplantation genetic screening is not yet advised.
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http://dx.doi.org/10.1016/j.fertnstert.2018.02.008DOI Listing
June 2018