Identifying the Genetic Culprit
“MED12 plays a role in how cells divide and grow,” explains Serdar Bulun, M.D., of Northwestern University in Chicago. (Graphic: National Institutes of Health)
“We also know that 70 to 80 percent of uterine fibroids contain what we call a MED12 mutation,” Bulun says. “MED12 plays a role in how cells divide and grow. Another 20 to 30 percent have a different mutation.”
“We found variants that cause a disruption in a gene called fatty-acid synthase [FASN],” explains geneticist Cynthia Morton, Ph.D., director of the Center for Uterine Fibroids, a collaborative project of Brigham and Women’s Hospital and the Mayo Clinic.
FASN’s job is protein-coding; it tells the gene how to function. When FASN’s instructions contain errors, diseases, such as fibroids, develop.
“We found that the expression of this protein was three times greater in fibroids than in normal uterine tissue,” Morton says.
“After my nearly three-year odyssey, I decided I had to do something,” says PaSean Wilson Ashley, who is producing a documentary on fibroids.
Why the Bleeding Won’t Stop
One of the most debilitating symptoms of fibroids is excessive bleeding — menstrual cycles so heavy that living a normal life becomes nearly impossible.
“My doctor told me that I had been so anemic for so long that I was risking a stroke with my next period,” Ashley says.
Far more research is needed into why the bleeding is so extensive in some women, “but we do know that a uterus with fibroids cannot contract properly and clamp down on the blood vessels to stop bleeding because the fibroids compromise the muscle function of the uterus,” Bulun says.
Other research suggests that inflammation of the blood vessels in the uterus may be involved as well.
