"We have identified CATSPER1 as a gene that is involved in non-syndromic male infertility in humans, a finding which could lead to future infertility therapies that replace the gene or the protein. But, perhaps even more importantly, this finding could have implications for male contraception," co-study author Michael Hildebrand, a postdoctoral researcher in otolaryngology at the University of Iowa, said in a university news release.

He and his colleagues discovered the gene mutations while analyzing the genetics of families in Iran -- where there are relatively high rates of disease-causing gene mutations -- to identify the genetic causes of deafness.

During their study, the researchers identified two families in which male infertility appeared to be inherited. Further investigation revealed that both families had mutations in the CATSPER1 gene. It's believed the mutations affect sperm motility, the motion sperm use to enter an egg during fertilization.

"Identification of targets such as the CATSER1 gene that are involved in the fertility process and are specific for sperm -- potentially minimizing side effects of a drug targeting the protein's function -- provide new targets for a pharmacological male contraceptive," Hildebrand said.

The study appears in the April 2 online edition of the American Journal of Human Genetics.

More information

The American Urological Association Foundation has more about male infertility.

source: University of Iowa, news release, April 2, 2009

-- Robert Preidt