A new study identifies a cause of severe male infertility

A team at Newcastle University has identified a genetic mechanism that causes severe male infertility

They hope that this may lead to better treatment options for male factor infertility, which causes nearly half the cases of infertility worldwide, in the future.

The study was published in January 2022 in the journal Nature Communications. New data shows that the medical condition is often caused by spontaneous mutations that are not inherited. These mutations occur during the reproduction process when both parents’ DNA is replicated. Later in life, it can cause male infertility, which is still poorly understood.

Ideally, this new understanding will help provide infertile couples with more answers and treatment options, increasing their chances of having a baby. The research team was led by Professor Joris Veltman, Dean of Newcastle University’s Biosciences Institute, and included patients from Radboud University Medical Centre in the Netherlands and the Newcastle Fertility Centre.

According to Professor Veltman, “this is a real paradigm shift in our understanding of the causes of male infertility

Most genetic studies look at recessively inherited causes of infertility, whereby both parents are a carrier of a mutation in a gene, and infertility occurs when the son receives both mutated copies, resulting in problems with their fertility.”

“However, our research has found that mutations, which occur when the DNA is replicated during reproduction in parents, play a significant role in the infertility in their sons. 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.”

As part of the study, the team collected DNA from 185 men and their parents in both the UK and Netherlands

During analysis, they found 145 protein-altering mutations. These rare mutations are likely responsible for the patients’ infertility.

If even one of these genes is mutated during the replication process, a male faces a 50% chance that he will be infertile later in life. These mutations can also occur during assisted reproduction, which means that infertile men are likely to pass on their infertility to their male children.

As Professor Veltman says: “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.

“With our information and the research others are doing, we hope clinicians can improve counselling 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.”

This research is likely to lead to advancements in treating male factor infertility, which could help millions of people become parents. Could this information potentially help you and your partner?

We’re excited to learn more about Dr Veltman’s work, and we wish him and his team success as they investigate this issue further

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