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Newly-identified genetic mutations could help explain early menopause and infertility

Two newly-identified genetic mutations could increase our understanding of the causes behind premature , which is one cause of infertility, and potentially guide options for treating women with the condition, according to research from Magee-Womens Research Institute (MWRI) recently published online in the Journal of Clinical Investigation and the .

The mutations, which occurred in women with , a condition that causes a woman’s ovaries to stop working prior to 40 years of age, were found in genes that repair damaged DNA in the cells of the ovary that eventually become egg cells. In the U.S., affects about one percent of women during their reproductive years, some as early as their teenage years. Apart from compromising fertility, the condition also puts women at high risk for osteoporosis and heart disease.

Researchers from MWRI, in collaboration with international colleagues, performed genome sequencing on blood and skin samples from three families. Each family had at least one woman with premature ovarian failure.

“Most women with premature ovarian failure don’t know why they can’t reproduce, and it can be devastating for them,” said the senior author of the studies, , M.D., Ph.D., a researcher with MWRI and the Marcus Allen Hogge chair in reproductive sciences at the University of Pittsburgh. “Our findings indicate that genetics may play a strong role in this condition and raise the prospect of one day developing therapies to delay the early onset of menopause.”

According to Dr. Rajkovic, this research shows the power of whole genome sequencing. “Now that we understand some of the contributors to premature ovarian failure, we can work toward correcting the condition,” he said.


Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability, Saleh AlAsiri, Sulman Basit, Michelle A. Wood-Trageser, Svetlana A. Yatsenko, Elizabeth P. Jeffries, Urvashi Surti, Deborah M. Ketterer, Sibtain Afzal, Khushnooda Ramzan, Muhammad Faiyaz-Ul Haque, Huaiyang Jiang, Michael A. Trakselis and Aleksandar Rajkovic, J Clin Invest. doi:10.1172/JCI78473, published 1 December 2014.

MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability, Michelle A. Wood-Trageser, Fatih Gurbuz, Svetlana A. Yatsenko, Elizabeth P. Jeffries, L. Damla Kotan, Urvashi Surti, Deborah M. Ketterer, Jelena Matic, Jacqueline Chipkin, Huaiyang Jiang, Michael A. Trakselis7, A. Kemal Topaloglu, Aleksandar Rajkoviccorrespondenceemail, American Journal of Human Genetics, doi: 10.1016/j.ajhg.2014.11.002, published 4 December 2014.

University of Pittsburgh