Scientists at Newcastle University have uncovered a new genetic cause behind severe male infertility. This discovery could lead to better treatments for men struggling to conceive.
The study, published today in Nature Communications, reveals that new mutations—those not inherited from parents—play a key role in male infertility. These mutations arise during the DNA replication process when sperm and egg cells form.
How Mutations Affect Male Fertility
Researchers found that these mutations can harm sperm development and other reproductive functions. They studied DNA from 185 infertile men and their parents from around the world. Their analysis identified 145 rare mutations likely to disrupt male fertility.
Among these, 29 mutations directly affect genes involved in spermatogenesis—the process by which sperm cells develop. One gene, called RBM5, was found mutated in multiple infertile men. Past studies in mice show RBM5 plays an important role in fertility.
Implications for Inherited Infertility
Most of these mutations cause a dominant form of infertility. This means just one faulty gene can cause infertility, and there is a 50% chance this trait could pass to a man’s children through assisted reproductive technologies. This raises concerns that infertility could be inherited by future generations, especially sons.
Millions of children have been born through fertility treatments. This research suggests many of these children might inherit infertility from their fathers.
Expert Insights and Future Directions
Professor Joris Veltman, Dean of Newcastle University’s Biosciences Institute and lead researcher, explained: “With a genetic diagnosis, we can better understand why some infertile men still produce sperm usable for assisted reproduction. Our findings will help doctors counsel couples more effectively and choose the best treatment options.”
Understanding Male Infertility
Up to 7% of men face infertility, and male factors contribute to half of fertility problems in couples. However, the cause of infertility remains unknown in about half of these men.
To deepen their understanding, the researchers plan to expand their study to thousands of patients worldwide. They will investigate how these mutated genes affect sperm development and overall fertility.
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