De novo mutations may affect male fertility

De novo mutations are known to play an important role in the development of sporadic fitness-reducing disorders

Recently, an article titled "A de novo paradigm for male infertility" published in the international journal Nature Communications pointed out that de novo mutations play an important role in the development of sporadic fitness-reducing disorders

This is an important breakthrough in understanding the root causes of male infertility, or provides new ideas and hope for the development of new targeted treatments in the future

De novo mutations that are not inherited from the father's or mother's body may play a key role in male infertility, the researchers said

 "This is a major shift in our understanding of the causes of male infertility," said researcher Professor Weltman

Most genetic research has looked at recessive genetic causes of infertility, meaning that both parents may carry specific genetic mutations, and when the male offspring inherits copies of these mutations, infertility occurs, leading to the emergence of fertility problem

However, the study found that mutations that occur when the parents' DNA replicates during fertility may play an important role in the fertility of offspring males

However, researchers don't yet know why most men are infertile, and this study may provide clues

In the article, researchers collected and studied DNA samples from 185 infertile men and their parents and identified 145 rare protein-altering mutations that may negatively impact male fertility

As many as 29 of these mutations directly affect gene function in spermatogenesis (the process by which spermatogenesis occurs) or other cellular processes related to fertility

What's more, the researchers found mutations in the RBM5 gene in multiple infertile men, which previous studies in mice had shown play a key role in male infertility

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

Currently, millions of children are born through assisted reproductive technology as a result of infertile couples, and the findings of this paper suggest that a large proportion of these children may have inherited infertility from their fathers

Professor Veltman said if we could get a genetic diagnosis we could better understand the problem of male infertility and why some infertile men are still able to produce the sperm needed for successful assisted reproductive technology

Using this information and research by other scientists, the researchers hope that clinicians can improve counseling on couples-related issues and suggest the best strategy for getting a wife pregnant, or to rule out appropriate medically assisted procedures

It is estimated that up to 7% of men suffer from infertility, and in heterosexual couples, 50% of infertility problems are related to men, and in about half of male infertility cases, research on the reasons behind it People still don't know

In the future, the researchers hope to expand their study by analyzing more infertile men; the researchers will also further examine these newly discovered mutated genes, which are associated with sperm production and overall human fertility
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very critical
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Taken together, the results of this study suggest that de novo mutations may play a key role in severe male infertility and are new candidate genes that affect human fertility
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 Original search:

Oud, MS, Smits, RM, Smith, HE et al.
A de novo paradigm for male infertility.
Nat Commun 13, 154 (2022).
doi: 10.
1038/s41467-021-27132-8

Nature Communications: De novo mutations may affect male fertility