This Gene May Be Why Some Men Are Infertile, Study Says

This gives hope to many who are struggling to grow their family.
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ByStephanie Grassullo
Associate Editor
Jan 2019
close-up of couple embracing
Photo: Christoph Rucker

Breakthrough research published in eLife identified the importance of a specific gene in regulating the production of fully-functioning sperm.

For the first time, scientists understand the role of gene RBMXL2, which is similar to a possible infertility gene found on the Y chromosome in men. The gene appears to be crucial to making sperm, and sheds light on why some men struggle with fertility.

The 10-year international study involved experts from the US, Edinburg and Europe, and found deleting the RBMXL2 gene from chromosome 11 blocked sperm production.

Meiosis, the process of making sperm and eggs, is a hotspot for gene expression and sperm development, which involves copying long stretches of DNA into RNA. Without the RBMXL2 gene, other genes are not expressed properly, leading to mistakes which eventually block the production of sperm.

When scientists removed RBMXL2 gene from mice, it prevented sperm from being produced. The block occurred while the cells were dividing in the testes to make sperm, meaning none of the cells developed into sperm cells able to swim and fertilize eggs.

Researchers believe what they observed in the mice may also be happening for people struggling to conceive.

“The gene is found in all mammals, and we predict that similar problems found in mice will occur in infertile men, but we need to test this in future research,” says study leader David Elliott.

Most often we assume any fertility struggles are because of complications associated with females. But there are actually a lot of surprising facts about male infertility many don’t know about. Studies like these work to shed more light on the topic, and hopefully help those who are facing difficulty growing their family.

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