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Investigation of BAK, BAX and MAD2L1 gene expression in human aneuploid blastocysts

Published online by Cambridge University Press:  23 November 2023

M. Ahmed ,
H. Aytacoglu ,
O. Coban Open the ORCID record for O. Coban [Opens in a new window]  and
P. Tulay Open the ORCID record for P. Tulay [Opens in a new window]
M. Ahmed
Affiliation:
Near East University, Faculty of Medicine, Department of Medical Genetics, Nicosia, Cyprus
H. Aytacoglu
Affiliation:
Near East University, Faculty of Medicine, Department of Medical Genetics, Nicosia, Cyprus
O. Coban
Affiliation:
British Cyprus IVF Hospital, Embryology Lab, Nicosia, Cyprus
P. Tulay*
Affiliation:
Near East University, Faculty of Medicine, Department of Medical Genetics, Nicosia, Cyprus Near East University, DESAM Research Institute, Nicosia, Cyprus Near East University, Center of Excellence, Genetics and Cancer Diagnosis-Research Center, Nicosia, Cyprus
*
Corresponding author: Pinar Tulay; Email: pinar.tulay@neu.edu.tr
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Summary

Maintaining genomic stability is crucial for normal development. At earlier stages of preimplantation development, as the embryonic genome activation is not fully completed, the embryos may be more prone to abnormalities. Aneuploidies are one of the most common genetic causes of implantation failure or first-trimester miscarriages. Apoptosis is a crucial mechanism to eliminate damaged or abnormal cells from the organism to enable healthy growth. Therefore, this study aimed to determine the relationship between the expression levels of genes involved in apoptosis in human aneuploid and euploid blastocysts. In total, 32 human embryos obtained from 21 patients were used for this study. Trophectoderm biopsies were performed and next-generation screening was carried out for aneuploidy screening. Total RNA was extracted from each blastocyst separately and cDNA was synthesized. Gene expression levels were evaluated using RT-PCR. The statistical analysis was performed to evaluate the gene expression level variations in the euploid and aneuploid embryos, respectively. The expression level of the BAX gene was significantly different between the aneuploid and euploid samples. BAX expression levels were found to be 1.5-fold lower in aneuploid cells. However, the expression levels of BAK and MAD2L1 genes were similar in each group. This study aimed to investigate the possible role of genes involved in apoptosis and aneuploidy mechanisms. The findings of this investigation revealed that the BAX gene was expressed significantly differently between aneuploid and euploid embryos. Therefore, it is possible that the genes involved in the apoptotic pathway have a role in the aneuploidy mechanism.

Keywords

AneuploidyApoptosisBlastocystGene expression
Type
Research Article
Information
Zygote , Volume 31 , Issue 6 , December 2023 , pp. 605 - 611
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Copyright
© The Author(s), 2023. Published by Cambridge University Press

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