Health Scan: Genetic mutation affects ovaries

Tel Aviv University researchers have discovered a cause for premature (primary) ovarian insufficiency (POI) in women under the age of 40. The condition affects one percent of all younger women worldwide. In most cases, the exact cause of the condition, which is often associated with infertility, is difficult to determine.

The previously-unidentified cause of POI is a unique mutation in a gene called SYCE1 that has not been previously associated with POI in humans (although it had been in animal models). The research, published recently in the Journal of Clinical Endocrinology and Metabolism, was led by Dr. Liat de Vries and Prof. Lina Basel-Vanagaite of TAU’s Sackler Faculty of Medicine and Schneider Children’s Medical Center in Petah.


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