New gene identified as a cause of male infertility

An international research collaboration - including the University of Dundee - has identified a gene responsible for one of the causes of male infertility.

The gene discovery relates to a condition known as round headed sperm, or globozoospermia, which affects a small percentage of men suffering from infertility problems.

Until now the main cause of the condition was unknown but new research involving the University of Strasbourg, Farah Hospital Amman in Jordan, and the University of Dundee has established that a genetic defect has a sterilising effect on the men’s sperm.

'What we have established is a clear cause for this form of male infertility,' said Professor Christopher Barratt, of the Reproductive and Developmental Biology Group in the School of Medicine at Dundee.

'It is not a particularly common condition - around one in 12 men suffer from infertility problems and round headed sperm accounts for only a small percentage of that number. But it is important that we find causes and treatments for all forms of male infertility.

'With this condition, now that we have identified the genetic defect and shown that it is the common cause of round headed sperm, we are able to offer successful treatments and there have been positive results in using assisted conception for families.'

The research was sparked by the identification of a family of five brothers in Jordan who all had globozoospermia, four of whom were found to have the genetic defect. Additionally, other men with the disorder from France and North Africa have been show to have the defective gene.

The study is published in the American Journal of Human Genetics.