Tel Aviv Researchers Identify Genetic Mutation Associated With Ovarian Failure

 

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.

 

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. The research was led by Dr. Liat de Vries, Prof. Lina Basel-Vanagaite and a team of researchers from TAU and Schneider Children’s Medical Center in Israel.

 

“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,” Dr. de Vries said in a statement. “However, in 90 percent of the cases, the exact cause remains a mystery.”

 

The idea for the study, recently published in the “Journal of Clinical Endocrinology and Metabolism,” surfaced when Dr. de Vries was asked to treat two POI patients, daughters of two Israeli-Arab couples who were related to each other. The girls presented 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,” Dr. de Vries said. “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 hadn’t menstruated. The second, 16-years-old, showed no signs of development whatsoever.”