A large multinational collaboration involving teams from the United Kingdom, Europe, the United States, Australia, and India has discovered a new genetic mechanism that can cause severe male infertility.
It is estimated that up to 7% of all men suffer from infertility, and that the man is responsible for 50% of fertility issues in heterosexual couples. The cause of male infertility is unknown in more than half of cases.
The international team’s findings, which were published in the Nature Communications journal this week, show that new mutations in DNA that are not passed down from father or mother play a significant role in this medical condition.
Mutations that occur during the reproduction process, when both parents’ DNA is replicated, have been linked to infertility in men later in life, according to the researchers.
A global cohort of 185 infertile men and their parents’ DNA was collected and studied by scientists. They discovered 145 rare protein-altering mutations that are likely to affect male fertility negatively.
As many as 29 of the mutations affect genes that are directly involved in spermatogenesis (the development of sperm cells) or other cellular processes related to reproduction.
As a result of infertility, millions of children have already been born through assisted reproductive technologies. According to this study, a large percentage of these children may inherit their father’s infertility.
Clinical teams could better understand why some infertile men still produce sperm that can be used for assisted reproduction, improve couple counselling, and discuss therapeutic strategies with improved genetic diagnosis.
Moving forward, the researchers hope to expand their research by collaborating with a large international consortium to study thousands of patients and their parents.
They will continue their research by looking into the impact of these newly discovered mutated genes on spermatogenesis and overall fertility in humans.
