BGU researchers find genetic defect that causes male infertility

The reasons for this new genetic defect remain a mystery.

fertility feat 1 88 298 (photo credit: Illustrative photo)
fertility feat 1 88 298
(photo credit: Illustrative photo)
A previously unknown genetic mutation that causes male infertility has been discovered by researchers from the faculty of health sciences at Ben-Gurion University of the Negev and the fertility and in-vitro fertilization unit at Soroka University Medical Center in Beersheba.
Five percent of men suffer from infertility. About a fifth of them have a lack of sperm production, azoospermia, though the reasons are still a mystery.
The study was made with the participation of five men from a single family treated by a team from Soroka’s in vitro fertilization unit, led by Prof. Eitan Lunenfeld, chairman of the obstetrics and gynecology department. The men suffered from lack of sperm in their ejaculate and spermatogenic arrest in their testes, but with no obvious cause.
Profs. Ruti Parvari and Mahmoud Huleihel – from the Shraga Segal Department of Microbiology and Immunology and the Fertility Research Center – discovered a mutation in a gene that is supposed to protect the full DNA sequence in sperm.
The mutation inactivates the function of the gene, thereby arresting the production of sperm. First author on the article was Maram Arafat from Parvari’s research group.
The results link damage to this gene with infertility for the first time. As a result of this study, specific scans in the future will be available to test for mutations in this gene, which are important for prognostic and treatment of the couples, the researchers wrote in the Journal of Medical Genetics