New Research Reveals Genetic Action Responsible for Male Infertility
It is National Infertility Awareness Week. For some men who are hoping to play a paternal role may be disappointed as infertility may be present. It is estimated that up to 7% of men are affected by infertility, say researchers of a newly published study.
According to new research, scientists at Newcastle University have identified a new genetic mechanism that can cause severe forms of male infertility. The work, which the team called a “breakthrough study,” was published in Nature Communications, and shows that new mutations, not inherited from father or mother, play a major role in this medical condition.
Previous research has shown that male infertility has roots in mutations occurring during the reproduction process, when the DNA of both his parents is replicated.
Professor Joris Veltman, Dean of Newcastle University’s Biosciences Institute, UK, 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.”
In this new study, scientists 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.
The researchers have identified mutations in the gene RBM5 in multiple infertile men.
Importantly, these mutations mostly cause a dominant form of infertility, where only one mutated gene is required. As a consequence, there is a 50% chance that infertility caused by these mutations will be passed on to the man’s child (if assisted reproductive technologies are used) and this may result in infertility, particularly in sons.
The researchers noted they intend to conduct further studies into the role these newly identified mutated genes have on the impact of spermatogenesis and on the overall fertility in humans.
This study is likely to get many men talking, especially those who want to begin or extend their biological families. For men who are concerned about supporting their reproductive health, LJ100® Tongkat Ali (Eurycoma longifolia) may be a beneficial supplement in their healthy lifestyles.
It is known that low sperm concentration and slow or inadequate mobility both decrease the chance of successful penetration of a spermatozoon into the egg.
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