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Cause for Male Infertility Discovered

Cause for Male Infertility Discovered

August 4, 2017

Medical Research, Press Releases

Researchers at Ben-Gurion University of the Negev and Soroka University Medical Center in Beer-Sheva, Israel have discovered a new genetic mutation that prevents sperm production.

Prof. Ruti Parvari

Five percent of men suffer from infertility and approximately one percent suffer from azoospermia, a condition in which sperm cells are completely absent.

For the first time, the researchers identified a mutation in the gene TDRD9 using whole genome genotyping and sequencing. The results were published in the Journal of Medical Genetics.

The findings were possible only because five men from a single Bedouin family suffered from lack of sperm and spermatogenic arrest in their testis with no obvious cause. The men were being treated by Dr. Eitan Lunenfeld and his team at Soroka’s In Vitro Fertilization Unit.

Profs. Ruti Parvari and Mahmoud Huleihel of the Shraga Segal Department of Microbiology, Immunology and Genetics discovered the mutation in the gene, which normally protects the full DNA sequence in sperm. This mutation inactivates the function of the gene and arrests sperm production.

Prof. Mahmoud Huleihel

“With the link between this damaged gene and male infertility now identified, specific scans will be available to test for the mutation that will be important for treatment of a couple’s infertility,” the researchers say.

This study was partially supported by The Natural Science Foundation of China (NSFC) – Israel Science Foundation (ISF) (NSFC-ISF) (1183/14).

About American Associates, Ben-Gurion University of the Negev

American Associates, Ben-Gurion University of the Negev (AABGU) plays a vital role in sustaining David Ben-Gurion’s vision: creating a world-class institution of education and research in the Israeli desert, nurturing the Negev community and sharing the University’s expertise locally and around the globe. Activities include showcasing BGU’s academic excellence and cutting-edge research through educational programs, events and informative communications. AABGU’s main purpose is to support Ben-Gurion’s vision and the university that bears his name by creating a community of Americans committed to improving the world tomorrow from the heart of the Israeli desert today.

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