Infertility affects approximately 10% of men, but the cause of 60% of male infertility cases is still unclear. Scientists have now discovered that a genetic variant on the Y chromosome significantly increases the chance of men facing reproductive problems.
The variant seems to affect the region of the Y chromosome that is critical for sperm cell development.
Researchers hope to monitor and track this gene variant, and perhaps identify people at higher risk of infertility in some men’s early adulthood, so as to help them make more informed decisions about future reproductive plans .
A genetic variant on the Y chromosome significantly increases the chances of men facing reproductive problems
In this study, the Wellcome Sanger Institute and 4span University of Tartu
The researchers conducted one of the largest genetic studies to date, with the purpose of exploring the unexplainable problem of male infertility.
The study recruited more than 2,300 Estonia men, and about half of them had experienced unexplainable infertility problems. After analyzing their genomes, the researchers found that some of the men carried a gene variant on the Y chromosome, which was inverted in an area known to be critical for sperm cell development (sperm formation).
Although inversion itself does not seem to have a direct impact on fertility,But it will lead to a higher probability of gene deletion on this part of the carrier's Y chromosome. The researchers said that the deletion of this part of the gene may increase the risk of sperm reduction or even azoospermia by nine times.
The phenomenon of inversion is relatively common, and it can be passed from father to son. There are "quite many" males in European offspring with this inversion on the Y chromosome.
Scientists stated that they have conducted the largest and most complex study on genetic variation in this specific chromosome region. Genetic variation in this region may increase the risk of impaired sperm formation in men.
monitors and tracks this gene variant, and may be able to identify men with a higher risk of infertility in their early adulthood
through contact with a large number of patients and men of value, they will Comparing their genetic data with andrology information, we can determine a common Y chromosome subtype. This Y chromosome subtype is susceptible to genetic changes that lead to a decrease in sperm count, and it is not easy to be found, so that it is passed on to the offspring until the A gene deletion occurs in a genomic region.
The research team hopes that their findings can facilitate the screening of Y chromosome subtypes, inversions and deletions to help men understand the root causes of reproductive problems.
Scientists believe that finding the genetic factors that impair the sperm production function of men will help them diagnose and get corresponding help.
They said that although we also knew that some gene deletions on the Y chromosome would interfere with sperm production,But a detailed understanding of this level is very important for managing male reproductive problems. In this case, men can choose to give birth to offspring as soon as possible or save sperm for later use. These are all worthy of discussion.
It is estimated that one of every seven heterosexual couples suffers from infertility. There are many possible causes of infertility. Either spouse may become infertile. But in 25% of cases, the cause is difficult to determine. (Yun Lin)
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