Male infertility: Scientists discover candidate gene for impaired spermatogenesis

ound. These mutations were not found amongst the control group.

For two of the patients in whom a mutation was found DNA from their parents was available, and this showed that in both cases the mutation had been inherited from their mothers. All three patients appeared to be normal in every other respect, and none had any symptom of BWS. One of them had a medical history of cryptorchidism.

Dr Gianotten said: "These results suggest that the ZNF214 gene is involved in impaired spermatogenesis, either on its own, or because it causes cryptorchidism which in turn leads to impaired spermatogenesis. In this study only one of the patients in which a mutation was found reported a history of cryptorchidism. This might indicate the involvement of ZNF214 in impaired spermatogenesis on its own. However, it is also possible that ZNF214 is a disease-causing gene for cryptorchidism.

"The fact that the mutation in the gene appears to be inherited from the mother explains how subfertility due to impaired spermatogenesis can be passed on to the next generation. If it was inherited from the father then the mutation would become extinct in the population."

Dr Gianotten said more research was needed to confirm the findings. "At the moment we are preparing studies to see how the gene is expressed in different cell types of human testicles, and we are looking for the identical gene in mice to test the function of the gene and its mutation."


Contact: Margaret Willson
European Society for Human Reproduction and Embryology

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