Researchers from the Faculty of Health Sciences at Ben-Gurion University of the Negev and the Fertility & In Vitro Fertilization (IVF) Unit at Soroka 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 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 who were treated at Soroka Medical Center for arrest of sperm in their testes with no obvious cause.
The treatment team at the IVF Unit was led by Prof. Eitan Lunenfeld, chair of the Department of Obstetrics and Gynecology.
Profs. Ruti Parvari and Mahmoud Huleihel from the Shraga Segal Department of Microbiology & 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 said.
The results of the study, “Mutation in TDRD9 causes non-obstructive azoospermia in infertile men,” were 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 supported in part by The Natural Science Foundation of China (NSFC) – Israel Science Foundation (ISF) (NSFC-ISF) (1183/14).