Male Infertility and Genetics

There may be several reasons for such dysfunction: a consequence of diseases of the genital organs, congenital pathology, everyday forms (drug addiction, stress, taking certain medications).

The best andrologists and urologists are trying in every possible way to find new methods that can return a man's reproductive function. Sometimes, to solve this problem, it is enough for the patient to get rid of bad habits and undergo a course of restorative therapy. But in the case where genetics played a major role in male infertility, its treatment becomes more difficult.

The cause of infertility in men at the genetic level

Israeli researchers in the field of molecular genetics in the journal "Nature Communications" published a scientific paper explaining the incredibly high percentage of male infertility in the human population. In their work, geneticists report that this phenomenon is a consequence of the accumulation of harmful mutations in the genes that determine male sex, due to the asymmetrical "slippage" of the mechanism of natural selection.

According to rough estimates, the problem of reduced fertility, arising from genetic mutations, affects on average about 15 percent of men. Such a high and constant degree of the presence of this trait, unfavorable for the survival of the species in the population, is paradoxical, since it contradicts the logic of natural selection, tracking harmful alleles.

If you have been unable to conceive a child for a long time, first of all you will need to consult a urologist or andrologist.

Professor of Medical Sciences Shmuel Pietrokovski, together with his colleague Moran Gershoni from the Department of Molecular Genetics of the Weizmann Institute of Science (located in Israel), in exploring various options for explaining this paradox, voiced the assumption that infertility in men may be associated with a difference in the work of genetic selection, whose activity is equal in both sexes, and genes whose expression is unconditionally associated with one of the sexes, for example, with the male. Unlike the first, in the second variant, positive selection for male genes is reduced among the female half of the population, and harmful metamorphoses in them are inherited and accumulate.

Pietrokowski and Gershoni created a mathematical model of such asymmetric evolution, which revealed that the number of harmful mutations in sex-linked genes should exceed the general population indicator by two times. To test this hypothesis, geneticists, using computer analysis of data on the activity of human genes, counted 95 of them, whose expression occurs only in the testicles. It is not news that damaging metamorphoses in these genes lead to male sterility. After that, the scientists tracked the behavioral factor of these 95 percent of genes, strictly linked to sex in the genomes deciphered within the framework of the "1000 Genomes" project. The analysis revealed that, according to the mathematical model, the level of harmful mutations in them is twice as high as the indicators of genes that are equally active in both sexes. "We assume that the basis for the high representation of infertility in men in the population is the inheritance of mutations that cause this pathology along the female line that does not participate in natural selection," conclude Pietrockowski and Gershoni.

It is worth remembering that in April 2013, specialists from the Center for Reproductive Medicine and Andrology at the University of Münster, which is located in Germany, informed the world about the identification of mutations that are responsible for male infertility. The discussion is about variations in the FSH gene, which is aimed at encoding the pituitary follicle-stimulating hormone, which is basic and responsible for the proper functioning of the reproductive system of the human body.

According to Israeli experts, a new look at the specifics of the action of the mechanism of natural selection in relation to genes associated with sex can explain why many diseases based on genetic mutations are asymmetrically associated with gender. For example, it has long been no secret that schizophrenia and Parkinson's disease mainly affect men, and depression and autoimmune diseases - women. In addition, according to doctors Pietrockowski and Gershoni, as a result of their research data, if a person suffers from infertility, and he decided to make an appointment with a reproductive specialist, when prescribing treatment, the doctor should definitely take into account the gender of the patient.