Preservation system: a breakdown in genes will indicate the risk of having premature babies
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- Preservation system: a breakdown in genes will indicate the risk of having premature babies
Russian scientists conducted a study with pregnant women and found that disruptions in the gene responsible for relaxing smooth muscles can increase the risk of having a premature baby. The data obtained make it possible not only to identify risks, but also to evaluate the effectiveness of therapy. Experts told Izvestia that the study could be extremely useful in clinical practice, but it is too early to draw final conclusions, further scientific work in this direction is needed.
Research on the genetic risks of premature birth
A breakdown in the gene responsible for relaxing the muscles of various organs, including the uterus, indicates the threat of giving birth prematurely. Scientists from Sechenov University and their colleagues came to this conclusion after conducting a study with expectant mothers. This was told to Izvestia by the director of the V.F. Snegirev Clinic of Obstetrics and Gynecology at the Sechenov Center for Motherhood and Childhood, Head of the Department of Obstetrics and Gynecology No. 1 at the First Moscow State Medical University, Professor Raisa Chilova.
According to her, WHO data suggests that between 4% and 16% of babies are born prematurely, that is, up to 37 full weeks of pregnancy, depending on the country of residence. Premature birth can cause various diseases of newborns, which makes it one of the main problems of modern obstetrics worldwide. Therefore, the development of personal tocolytic pharmacotherapy, that is, therapy that slows down uterine contractions, preventing too early delivery, is a priority for scientists.
Pharmacogenetic testing, that is, the identification of genes that determine the response to therapy with a particular drug, helps to identify the risks of premature birth and assess the effectiveness of treatment.
120 women participated in the study. Sixty of them needed therapy to keep their pregnancy alive. And in the control group, there were mothers who had no complications during pregnancy.
For the first time, researchers have been able to show the role of a specific polymorphism (Gly16Arg) of the gene responsible for the beta-2-adrenergic receptor (ADRB2) in the threat of premature birth.
The ADRB2 gene itself encodes beta-2-adrenergic receptors, which are involved in the regulation of many body systems and are able to relax the smooth muscles of various organs, including the uterus, the scientists said. With a certain polymorphism, that is, a variant of this gene, Gly16Arg, the process is disrupted, and the uterus may begin to contract at the wrong time, long before the time when the baby should be born.
— Polymorphisms are variants of the same gene that occur due to constant mutation and recombination. For example, the anti-Muller hormone gene encodes a protein that affects the formation of the sex of an unborn child. But a breakdown may occur, and then a person will have one of the variants instead of the "classic" version of this gene, which will disrupt the process of puberty. Similarly, in our study, certain variants of the ADRB2 gene can affect the functioning of the uterus," explained Raisa Chilova.
Increase the chances of pregnancy survival
The data obtained make it possible not only to identify risks, but also to evaluate the effectiveness of therapy. So, if a woman is a carrier of the gene variant that does not cope with its task, the effectiveness of drugs that relax the muscles of the uterus by affecting beta-2-adrenergic receptors decreases. And, in order not to waste precious time when there is a risk of giving birth too early, you can use the data from genetic testing, select the most effective drugs and adjust their doses.
"The molecular genetic study of the ADRB2 gene is already helping doctors around the world evaluate the effectiveness of asthma therapy, since the receptors we are interested in also affect the smooth muscles of the bronchi, relaxing them and making it easier for the patient to breathe. Now the marker we are investigating helps to give women the joy of motherhood," said Raisa Chilova.
As the doctors explained, when patients are at risk of premature birth, they are prescribed complex treatment — it includes both drugs that stimulate receptors that relax the muscles of the uterus, and drugs with a different effect — they suppress receptors that stimulate labor and block cell structures that play a key role in tissue contraction.
This study represents an important step in the field of personalized medicine, showing that the Gly16Arg polymorphism of the ADRB2 gene affects the risk of premature birth and the effectiveness of therapy aimed at relaxing the uterus, Polina Vishnyakova, associate professor of the Department of Histology, Cytology and Embryology, head of the Laboratory of Molecular Pathophysiology at the RUDN Research Institute of Molecular and Cellular Medicine, told Izvestia.
— Identifying the relationship between genetic variants and predisposition to complications allows not only to better understand the mechanisms of the threat of premature birth, but also to introduce personalized treatment approaches, which can significantly increase the chances of pregnancy. This approach contributes to a more accurate risk assessment and timely selection of medicines, which is especially important for preventing premature birth and improving outcomes for mother and child, the expert said.
However, independent research is needed to ensure the reliability of judgments, said Stanislav Stragnov, head of the Laboratory for the Analysis of Public Health indicators and Digitalization of Healthcare at MIPT.
— An important point is how accessible pharmacogenetic counseling is to women in labor in principle and in ordinary maternity hospitals, — the expert emphasized.
Scientists will continue to study the genes that affect premature birth.
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