People understandably balk at taking the deep dive required to better understand the effects of genetics on health, specifically fertility. Questions of ethics and standards arise, particularly when discussing subjects such as gene editing, which implies an ability to create so-called “designer babies”.

The fact remains, though, that advances in understanding the role played by genetics in fertility continue to provide vital information to men and women seeking to conceive. Turning a blind eye and deaf ear to this information does not grant anyone positive benefits. Instead, doing so merely closes off opportunities for taking proactive measures to ensure the best possible health outcome for you and your family.

That said, there’s hope to be found in this relatively new territory of scientific discussion as regards male fertility. One very recent example: In January 2019, researchers at the Institute of Genetic Medicine, Newcastle University announced that they had identified the importance of a specific gene in regulating the manufacture of healthy and fully functioning sperm.

What a difference a gene makes

The gene in question, known as RBMXL2, is said to closely resemble a gene linked to possible fertility issues on the Y chromosome found only in males. The “breakthrough” aspect of the study discovery lies in part in the fact that this Y chromosome has proved notoriously troublesome to analyze. As a result, researchers have been encouraged by the findings associated with RBMXL2.

When it comes to infertility impacting the Y chromosome in men – and the difficulties it presents in terms of mitigation or treatment — an article from Genetics Home Reference indicates that it can impact sperm production in a variety of ways: Men affected this way might produce no mature sperm, fewer than normal sperm, or sperm cells that do not swim properly or are irregularly shaped. Perhaps most critically, men whose infertility is impacted by the Y chromosome “do not have any other signs or symptoms related to the condition”.

The 10-year Newcastle study, led by Professor David Elliott, included experts from Edinburgh, America, and mainland Europe. Elliott noted that the study’s importance extended beyond providing a new avenue of understanding hitherto unavailable to scientists, noting that the “psychological stress” experienced by couples dealing with infertility issues can also result in “economic consequences in some countries as it can affect care in later life”.

Elliott and his team used laboratory mice to arrive at their findings, removing the same RBMXL2 gene that is present in those mammals, as it is in humans. When the gene was not present in the mice, sperm was not created. The problem arises when the cells in the testes divide to make sperm, a process known as meiosis. Because the RBMXL2 gene was not present, the cells in the testes were unable to properly develop into sperm cells that could swim and subsequently fertilize female eggs.

Hope for the future

It’s important to note that the RBMXL2 gene is not in itself new to researchers. Its presence has been known about for at least the last 20 years, with references to it and related studies on file in the U.S. National Institutes of Health database.

Professor Elliott was quoted by Science Daily as saying that the importance of the discovery lies in how it might better predict problems in infertile men, adding that this issue would need further testing and research.

His sentiments were echoed by Aileen Feeney, chief executive of national patient fertility charity, Fertility Network, who pointed out that male fertility tends to be more widespread than most people seem to understand. She added that male infertility was “the most common reason for a couple to seek fertility treatment”.

Since many couples often believe that the woman may be the cause when it comes to difficulty conceiving, answers can be hard to come by when attention finally shifts toward the man. Feeney expressed hope that the research from Newcastle, though still in its early phases, might nonetheless provide “a greater understanding of male fertility in the future”.

Staying a step ahead of discovery

As always, men who wish to take full advantage of available benefits should carefully consider obtaining a fertility analysis, available from Legacy as part of a three-tier offering, which will provide various levels of information concerning a man’s potential for conceiving a child as well as recommendations for enhancing his fertility health and potential. If freezing of sperm is desired, customers can also proceed with that part of the process, assured of discretion and high-quality care of their assets.