Scientists at Newcastle University 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 today 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, UK, led the research which involved patients from Newcastle Fertility Centre and Radboud University Medical Centre in the Netherlands.
He said: “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 the 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 plays 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.”
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.
Millions of children have already been born through assisted reproductive approaches as a result of infertility. This research indicates a significant proportion of these children may inherit infertility from their father.
