PUBLIC RELEASE DATE:

17-Dec-2014

Contact: George Hunka ghunka@aftau.org 212-742-9070 American Friends of Tel Aviv University @AFTAUnews

Premature ovarian failure, also known as primary ovarian insufficiency (POI), affects 1% of all women worldwide. In most cases, the exact cause of the condition, which is often associated with infertility, is difficult to determine.

A new Tel Aviv University study throws a spotlight on a previously-unidentified cause of POI: a unique mutation in a gene called SYCE1 that has not been previously associated with POI in humans. The research, published 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 and conducted by a team of researchers from both TAU and Schneider.

While the genes involved in chromosome duplication and division had been shown to cause POI in animal models, this is the first time a similar mutation has been identified in humans.

A new insight

"Researchers know that POI may be associated with Turner's syndrome, a condition in which a woman has only one X chromosome instead of two, or could be due to toxins like chemotherapy and radiation therapy," said Dr. de Vries. "However, in 90% of the cases, the exact cause remains a mystery."

The idea for the study surfaced when Dr. de Vries was asked to treat two POI patients, daughters of two sets of Israeli-Arab parents who were related to each other. The girls presented with typical POI symptoms: one had the appearance of puberty but had not gotten her period, and the other one had not started puberty at all. After ruling out the usual suspects (toxins, autoimmune disease, and known chromosomal and genetic diseases), the researchers set out to identify the genetic cause of POI in the two young women.

"One of my main topics of interest is puberty," said Dr. de Vries. "The clinical presentation of the two sisters, out of 11 children of first-degree cousins, was interesting. In each of the girls, POI was expressed differently. One had reached puberty and was almost fully developed but didn't have menses. The second, 16 years old, showed no signs of development whatsoever."

Link:

Genetic mutation found to cause ovarian failure