New research points out that changes in two genes may be associated with cases of premature abortion, those that occur within three months of pregnancy. The prospect is that the study will help couples who repeatedly suffer from fetal loss and would have no other explanation for the phenomenon.
“When we talk about pregnancy loss, it’s very important for couples to understand what happened and work together with the doctor to avoid these losses”, says Taccyanna Mikulski Ali, molecular biologist and coordinator of prenatal analyzes at the Igenomix Brasil laboratory —researchers of the company were part of the new study.
The article, published in Scientific Reports, sequenced the genomes of 46 embryos considered chromosomally healthy. Fetuses needed to have healthy chromosomes because the focus was on investigating changes in genes.
“Within the genetic changes, we can have an alteration in the chromosome, which is the larger DNA structure that contains our genes, and we can have an alteration in a particular gene that is inside the chromosomes”, explains Ali.
There are already a number of studies that document how changes in some chromosomes, such as 9, 15 and 22, negatively impact the continuity of a pregnancy. “We know that at least half of the first trimester losses happen due to a chromosomal change, which is called aneuploidy”, he says.
In addition to miscarriages, the molecular biologist explains that changes in chromosomes in fetuses are related to genetic syndromes, such as down.
However, some couples continue to lose children without taking into account the changes recorded in the chromosomes, so investigations are needed to look at other explanations for why premature abortions continue to occur under these conditions.
Some of these reasons could be hormonal changes and bacterial or viral infections. However, another explanation concerns cases in which there is a change in the gene, not the chromosome — and that was precisely the point investigated by the research.
“The study was focused on healthy people, but who had had one or two miscarriages so that we could try to identify another genetic cause that could explain these losses”, summarizes the scientist.
In the total of 46 embryos that made up the research, the scientists mapped 439 variants in 399 genes that had already been researched previously in other studies. Thus, they found that variations in STAG2 and TLE4 genes may be related to premature fetal death.
There are two hypotheses for the association of these genes with abortion. In the case of STAG2, it has already been documented that, when inactive, it causes death in mice, and may therefore be related to the premature death of the embryo. “If the gene that we’ve seen, when it’s inactive in the mouse, turns out to be lethal, then that’s already a strong association. [para explicar o aborto precoce].”
Meanwhile, the TLE4 gene is associated with WNT, a signaling pathway that interacts with chromosome 9, which is associated with abortion, which may be its explanation for the relationship with the abortion of embryos.
The study’s finding reiterates what other research has already shown about these two genes and also indicates a more predictable path for counseling couples who intend to have a child, something that usually happens when the second consecutive loss of a fetus is recorded.
“By studying a couple, it is possible to say in advance what the chances are that they will have a pregnancy with a miscarriage and you can already give an answer even for the couple to think about the pregnancy”, says Ali.​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​
Although the study brings promising findings that reiterate other investigations, an analysis with a more diverse sample is still important, because, in this work, all embryos were of European origin.
Ali explains that by studying fetuses of different origins, it may be possible to discover other genetic variations that may be associated with abortions. In addition, says the researcher, having a larger sample of embryos is necessary even to consolidate the findings of the study.
“The next steps are to think about increasing the number of cases and also the impact that this will have on genetic counseling, which may end up bringing more information to help patients”, concludes the biologist.
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