Researchers from the Faculty of Health Sciences at BGU and the Fertility and In Vitro Fertilization (IVF) Unit at Soroka University Medical Center have discovered a new genetic mutation that causes a lack of sperm production.
Five percent of men suffer from infertility and about one percent will suffer from azoospermia, a lack of sperm production, although the reasons for this lack of sperm are still a mystery. The study was made possible as a result of five men from a single family treated by a team of physicians and personnel from the IVF Unit at Soroka University Medical Center led by Prof. Eitan Lunenfeld, chair of the Department of Obstetrics and Gynecology. The patients suffered from lack of sperm in the ejaculate and spermatogenic arrest in their testis 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 the sperm. The mutation inactivates the function of the gene and thus the production of sperm is arrested.
These results link damage to this gene and infertility for the first time. As a result of this study, in future, specific scans will be available to test for mutations in this gene which are important for prognostic and treatment of the couples, the researchers say.
The study was published recently in the Journal of Medical Genetics. First author on the article is Maram Arafat from Prof. Parvari's research group.
The study was partially supported by The Natural Science Foundation of China (NSFC) - Israel Science Foundation (ISF) (NSFC-ISF) (1183/14).
“Mutation in TDRD9 causes non-obstructive azoospermia in infertile men"
Maram Arafat, Iris Har-Vardi, Avi Harlev, Eliahu Levitas, Atif Zeadna, Maram Abofoul-Azab, Victor Dyomin, Val C Sheffield, Eitan Lunenfeld, Mahmoud Huleihel, Ruti Parvari
