Male infertility: Scientists discover candidate gene for impaired spermatogenesis

Lausanne, Switzerland: Researchers in the Netherlands believe they have identified a gene that is involved in causing infertility in men.

Dr Judith Gianotten told the European Society of Human Reproduction and Embryology annual meeting in Lausanne today (Wednesday 4 July) that the ZNF214 gene is probably a candidate gene for impaired spermatogenesis (an inability to make enough sperm cells).

Now they are testing the gene in human testicle cells and mice to discover exactly what role the gene plays in the production (or not) of sperm cells. An understanding of how it works may help researchers in the future to design ways of targeting the gene and developing treatments to men affected by this form of infertility.

Dr Gianotten, a researcher from the Center for Reproductive Medicine at the Amsterdam Academic Medical Center, told the conference that the ZNF214 gene mainly expresses itself in the testis and is located on chromosome 11p15. This part of the chromosome is linked to the Beckwith Wiedemann Syndrome (BWS) a complex overgrowth disorder, which often involves boys being born with undescended testicles (cryptorchidism) who suffer from infertility as adults1. She said: "For these reasons we hypothesized that ZNF214 could be involved in male subfertility and we decided to test whether this was the case.

"First we investigated whether this gene was associated with impaired spermatogenesis. We found a significantly different distribution of DNA variations in this gene2 in patients with low fertility compared with the control group, which indicated that the gene was indeed associated. So we screened the gene for mutations in men suffering from infertility due to impaired spermatogenesis."

The researchers took DNA from 77 men with very low sperm counts and compared it with DNA from a control group of 65 men with normal sperm counts. In three patients from the infertile group, three new mutations of the ZNF214 gene were f

Contact: Margaret Willson
European Society for Human Reproduction and Embryology

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