Male infertility linked to faulty gene

By Anthea Lacchia

The cause of male infertility, long shrouded in mystery, has had some light shown upon it by researchers in the Pasteur Institute in France and University College London. The new study provides new insight into the reasons for male infertility.

The research shows that genetic defects could be responsible for at least some of the cases of currently unexplained male infertility. Mutations of the NR5A1 gene were found in a small percentage of infertile men and linked to physical defects in the development of the testicles.

The research team sequenced the gene in 315 men and results suggest that, even when there is no physical manifestation of the mutation, the defective gene may still be affecting sperm production. However, the process involves the interaction of many genes and is not yet fully understood.

As Dr Allan Pacey, a fertility expert at the University of Sheffield points out, there is still “embarrassingly little” known about the genetics behind male infertility. Hopefully, with this new development, steps toward curing male infertility will soon be possible.