A real paradigm shift!

This breakthrough in understanding the underlying causes of male infertility could lead to better treatment options for future patients
.

The study, published today in the journal Nature Communications, shows that new mutations not inherited from the father or mother play a major role in the disease
.

Experts have found that mutations that occur when the DNA of both parents is replicated during reproduction can cause male infertility later in life
.

improve understanding

Hopefully, this new knowledge will help provide more answers about the causes and best treatment options for infertile couples in the future
.

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Professor Joris Veltman, Director of the Institute of Biological Sciences at Newcastle University, UK, led the study, which included patients from Newcastle Fertility Centre and Nijmegen 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 research looks at recessive genetic causes of infertility, where both parents are carriers of a genetic mutation, when the son receives Infertility occurs when two mutant copies are produced, causing problems with their fertility

"However, our study found that mutations that occur when parents replicate their DNA during reproduction play an important role in the infertility of their sons
.

"Currently, we don't know the underlying cause of most infertility in men, and this study promises to increase the proportion of men for whom we can provide answers
.

"

Scientists collected and studied the DNA of 185 infertile men and their parents around the world
.

They identified 145 rare protein-altering mutations that could negatively impact male fertility

As many as 29 mutations directly affect genes related to spermatogenesis -- the process of sperm cell development -- or other cellular processes related to reproduction
.

Experts have identified mutations in the RBM5 gene in multiple infertile men
.

Previous studies in mice have shown that the gene plays an important role in male infertility

Importantly, these mutations primarily lead to a dominant form of infertility, in which only one mutated gene is required
.

Therefore, infertility caused by these mutations has a 50% chance of being passed on to a male child (if assisted reproductive technology is used), which can lead to infertility, especially sons

Due to infertility, millions of children have been born through assisted reproductive methods
.

This study suggests that a large percentage of these children may have inherited infertility from their fathers

"If we can get a genetic diagnosis, then we can begin to better understand the problem of male infertility, and why some infertile men are still able to produce sperm that can be used successfully in assisted reproduction," Professor Veltman said
.

"With our information and the research that others are doing, we hope that clinicians can improve counseling for couples and suggest the best course of action for pregnancy, either by proposing an appropriate medically assisted procedure, or in the absence of a suitable provide appropriate alternatives
.

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infertility problems

It is estimated that up to 7% of men are affected by infertility and that 50% of fertility problems in heterosexual couples are caused by men
.

In about half of male infertility cases, the cause is unexplained

In the future, the scientists want to expand their work to study thousands of patients and their parents in a large international consortium project
.

They will continue their research to further examine the impact of these newly discovered mutated genes on spermatogenesis and overall human fertility
.

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Nature Communications , 2022; 13 (1) DOI: 10.
1038/s41467-021-27132-8