Scientists identified a genetic mechanism that can cause male infertility

Breakthrough into the cause of male infertility.


A new study by Newcastle University offers an understanding of the underlying cause of male infertility. Scientists discovered a new genetic mechanism that can cause severe forms of male infertility.

Mutations that occur during the reproduction process, when the DNA of both parents is replicated, can lead to infertility in males later in life.

Spermatogenesis is the process of sperm cell development. Almost 29 of the mutations affect genes directly involved in this process or other cellular processes related to reproduction.

Scientists found the gene RBM5 is a key player in male infertility in a past study. Hence, scientists identified gene RBM5 in multiple infertile men. Significantly, these mutations generally cause a predominant type of infertility, where just one gene is required. As an outcome, there is a 50% possibility that infertility caused by these mutations will transfer to the man’s child(assuming helped conceptive advancements are utilized), which might cause infertility, especially in sons.

Professor Joris Veltman, Dean of Newcastle University’s Biosciences Institute, UK, said“If we can obtain a genetic diagnosis, then we can start understanding better male infertility problems and why some infertile men still produce sperm that can be used successfully for assisted reproduction.”

“With our information and the research others are doing, we hope clinicians can improve counseling for couples and recommend what is the best course of action to conceive, either by proposing an appropriate medically-assisted procedure or in cases where none is suitable, provide appropriate alternatives.”

Scientists are further planning to identify the role of these newly identified mutated genes in spermatogenesis and humans’ overall fertility.

Journal Reference:

  1. M. S. Oud, R. M. Smits et al. A de novo paradigm for male infertility. Nature Communications, 2022; 13 (1) DOI: 10.1038/s41467-021-27132-8
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