Breakthrough into the cause of male infertility

Scientists at Newcastle University, U.K., have identified a new genetic mechanism that can cause severe forms of male infertility. This breakthrough in understanding the underlying cause of male infertility offers hope of better treatment options for patients in the future. The study, published in Nature Communications, shows that new mutations, not inherited from father or mother, play a major role in this medical condition.

Experts have found that mutations occurring during the reproduction process, when the DNA of both parents is replicated, can result in infertility in men later in life. It is hoped that this new knowledge will help to provide more answers in the future about the cause and best treatment options available to infertile couples.

Professor Joris Veltman, Dean of Newcastle University’s Biosciences Institute, led the research. “This is a real paradigm shift in our understanding of the causes of male infertility,” he said. “At present, we don’t understand the underlying cause in the majority of infertile men, and this research will hopefully increase the percentage of men for whom we can provide answers.”

Scientists collected and studied DNA from a global cohort of 185 infertile men and their parents. They identified 145 rare protein-altering mutations that are likely to negatively impact male fertility. As many as 29 of the mutations affect genes directly involved in processes related to spermatogenesis (the process of sperm cell development) or other cellular processes related to reproduction.

“If we are able to obtain a genetic diagnosis, then we can start understanding better male infertility problems and why some infertile men still produce sperm that can be used successfully for assisted reproduction,” Veltman said. “With our information, and the research others are doing, we hope clinicians can improve counseling for couples and recommend what is the best course of action in order to conceive, either by proposing an appropriate medically assisted procedure or in cases where none is suitable, provide appropriate alternatives.”

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