Study uncovered new potential genetic causes of male infertility

This discovery will help to develop better diagnostic tests for male infertility.


Male infertility is due to low sperm production, abnormal sperm function, or blockages that prevent the delivery of sperm. Illnesses, injuries, chronic health problems, lifestyle choices, and other factors can play a role in causing male infertility.

Not being able to conceive a child can be stressful and frustrating, but several male infertility treatments are available.

Despite the known importance of genetic factors in the event of the man producing no sperm, only about 25% of these cases are explained currently.

According to a new study- to be presented today at- European Society of Human Genetics- disclosed new potential genetic causes of male infertility.

Ms Manon Oud, from the Radboud University Medical Centre, Nijmegen, The Netherlands conducted the first exome sequencing study, where they examined the vital role of de novo mutations (genetic changes that are not present in the DNA of the parents of an individual) in male infertility.

The human genome consists of 3 billion nucleotides or “letters” of DNA. But only a small percentage — 1.5 percent — of those letters are translated into proteins, the functional players in the body. The ‘exome’ consists of all the genome’s exons, which are the coding portions of genes.

Ms. Oud said, “These de novo mutations are found in every individual and are part of the natural evolution of the genome. Mostly they do not affect our health. But in some cases, they have a strong effect on gene function and can lead to disease. Until now, their role in male infertility had not been studied.”

Scientists volunteered 108 infertile men for the study. They then studied their DNA and also of their parents.

Ms Oud said, “Comparison of the parental DNA with that of the offspring enabled the identification of the de novo mutations. ” We found 22 in genes involved in spermatogenesis, none of them previously known to cause infertility in human.”

However, scientists think that it’s too early to give these patients a definitive diagnosis as further studies are ongoing. They want to screen more patients to learn more about the function of the genes that are affected by them.

Ms Oud says, “We are studying the role of these genes in material from testis biopsies of our patients and performing experiments in fruit flies to see whether disruption of these genes causes infertility in them.”

“The results will help establish new diagnostic tests, which will be able to provide a patient with a detailed analysis of the reason for his infertility and allow for personalized care. By establishing the molecular cause of infertility, the risk of transmitting infertility to another generation can be predicted.”

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