NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss

Саженова, Е. А.; Nikitina, T. V.; Vasilyev, S. A.; Tolmacheva, E. N.; Vasilyeva, Oksana Yu.; Марков, А. В.; Yuryev, S. Yu.; Skryabin, N. A.; Zarubin, A. A.; Kolesnikov, N. A.; Stepanov, Vadim; Lebedev, I. N.

doi:10.1007/s10815-021-02312-z

Cited by 8 publications

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“…It has been shown that naïve iPSCs can permit the genome-wide loss of DNA methylation [ 129 ], which may violate the expression of imprinted genes, which are important for extra-embryonic development [ 130 , 131 ]. Abnormal imprinting in the human placenta is associated with various disorders, including miscarriage [ 132 , 133 ]. Taking into account that differentially methylated regions are maintained in a placenta-specific manner, the aberrant DNA methylation in naïve iPSC-derived TSLCs can restrict their application in the modeling of pregnancy complications.…”

Section: Methods For Derivation Of Cells and Organoids For Trophoblas...mentioning

confidence: 99%

Stem Cell-Based Trophoblast Models to Unravel the Genetic Causes of Human Miscarriages

Nikitina

Lebedev

2022

Cells

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Miscarriage affects approximately 15% of clinically recognized pregnancies, and 1–3% of couples experience pregnancy loss recurrently. Approximately 50–60% of miscarriages result from chromosomal abnormalities, whereas up to 60% of euploid recurrent abortions harbor variants in candidate genes. The growing number of detected genetic variants requires an investigation into their role in adverse pregnancy outcomes. Since placental defects are the main cause of first-trimester miscarriages, the purpose of this review is to provide a survey of state-of-the-art human in vitro trophoblast models that can be used for the functional assessment of specific abnormalities/variants implicated in pregnancy loss. Since 2018, when primary human trophoblast stem cells were first derived, there has been rapid growth in models of trophoblast lineage. It has been found that a proper balance between self-renewal and differentiation in trophoblast progenitors is crucial for the maintenance of pregnancy. Different responses to aneuploidy have been shown in human embryonic and extra-embryonic lineages. Stem cell-based models provide a powerful tool to explore the effect of a specific aneuploidy/variant on the fetus through placental development, which is important, from a clinical point of view, for deciding on the suitability of embryos for transfer after preimplantation genetic testing for aneuploidy.

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