For women, fibroids linked to gene mutation

U. PITTSBURGH (US) — Mutations in a regulatory gene are present in two-thirds of uterine fibroids, a finding that sheds light on the pathways that allow the noncancerous tumors to develop.

Fibroids—that can cause heavy bleeding, anemia, pain, and infertility—affect a quarter of all women, and are the most common cause of hysterectomy in the United States.

“Medical therapies for fibroids have had little success because we don’t really understand how or why they develop,” says Aleksandar Rajkovic, assistant professor of obstetrics, gynecology, and reproductive services at the University of Pittsburgh. “Our first step to unraveling this process was to determine if there are differences between the genes of fibroid cells and those of the neighboring normal tissue.”


As reported in the journal PLoS One, using sophisticated technology to sequence the genome, the research team examined both fibroid and healthy uterine tissue from five women who had hysterectomies. They found that three of them had fibroids with mutations in a gene called MED12 that, like the conductor of an orchestra, tells other genes what to do.

They then checked for MED12 mutation in 143 uterine fibroids of different individuals obtained from a biobank and found them in two-thirds of the samples. Normal uterine tissue samples did not contain mutations.

“This means that something happens in the uterus that causes MED12 mutation that in turn leads to the growth and formation of the fibroid tumor,” Rajkovic says. “We don’t know what causes the gene alteration, but we can now target the activity of MED12 pathway genes and proteins to see if we can abolish fibroid growth so that one day women might be able to avoid surgical treatment of fibroids.”

The researchers also are looking for other mutations that could explain fibroid development in the other third of patients.

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