De novo mutations may result in male infertility, new study says

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A new study published in Nature Communications, found de novo mutations can cause severe forms of infertility for males later in life, providing new insight into the cause of male infertility.

Led by Professor Joris Veltman, PhD, Dean of the Biosciences Institute at Newcastle University in the U.K, researchers studied the DNA of 185 infertile men and their parents from a global cohort. Of the samples, scientists identified 145 protein-altering mutations that can negatively affect male fertility. In addition, 29 mutations that directly impacted spermatogenesis, the development of sperm cells, were determined as a possible cause of infertility. One of the genes with detected mutations was RBM5. Previous studies linked RBM5, which plays an essential role in the regulation of male germ cells, to infertility in mice.

In a follow-up study, scientists studied mutations in the RBM5 genes. In a cohort of 2,506 infertile men, researchers found six rare pathogenic missense mutations. In contrast, no mutations of the gene were detected in a cohort of 5,784 fertile men.  

The study’s results suggested that RBM5 mutations may play a role in severe male infertility. According to the study, for the most party, only one mutated gene was needed to cause infertility. In turn, the study estimated a 50 percent chance of infertility in the male children of infertile men who were able to reproduce through assisted reproduction services.

This study points to specific gene mutations that may cause infertility in men. The results suggested that male infertility may be result of mutations during the reproduction process, which may help shape future treatments for the condition.