Genetic mutation causes ovarian failure

29 December 2014

Researchers from Tel Aviv University have revealed a unique genetic disorder, which is responsible for ovarian insufficiency in women under 40.

Published in the Journal of Clinical Endocrinology and Metabolism, the study sheds light on a previously unknown cause of premature ovarian failure or primary ovarian insufficiency (POI), which affects one per cent of women around the world.

The new discovery involves a gene called SYCE1, which had not been linked to POI but is key for chromosome duplication and division.

Led by Dr Liat de Vries and Professor Lina Basel-Vanagaite from TAU's Sackler Faculty of Medicine and Schneider Children's Medical Center, the study focused on two young POI patients, daughters of two sets of Israeli-Arab parents who were related to each other. 

Both presented typical POI symptoms, one had the appearance of puberty but had not started her period, while the other had not started puberty at all. After eliminating common causes (toxins, autoimmune disease, and known chromosomal and genetic diseases), the researchers wanted to determine the genetic cause of POI.

Dr de Vries said POI was expressed differently in the two girls and so the team performed genotyping in the patients, their parents, and siblings. This revealed a mutation that results in nonfunctional protein product in the SYCE1 gene in both affected sisters. 

Posted by Edward Bartel


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