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Duquesne Research Team Studies Mysteries of Fragile X Mental Retardation Syndrome

Dr. Rita Mihailescu looks at the most common inherited form of mental retardation with the high-tech lights of a spectroscope and a powerful computer in Duquesne University's Mellon Hall.

But she didn't realize the full impact of trying to understand how the absence of a normal cellular protein leads to lead to Fragile X syndrome until she attended a conference of the Fragile X Research Foundation that funded her work-meeting people and their families who deal with issues surrounding Fragile X on a daily basis.

"It was so enlightening for me; I had a changed perspective," said Mihailescu, who also received $557,906 in National Institutes of Health funding through the National Institute of General Medical Sciences for two different three-year grants ending next spring. "It really made me realize that I had an incorrect impression about the people affected by Fragile X, as many of them, with the unconditional support of their families try very hard and in many respects manage to overcome the limitations imposed by the disease."

Mihailescu is unraveling why and how the Fragile X Mental Retardation Protein (FMRP), which plays a key role in replicating genetic codes through RNA, goes missing-causing the child without this protein to have Fragile X syndrome.

Fragile X syndrome impacts one in 3,500 males and one in 6,000 females, said Mihailescu, associate professor in the Bayer School's Department of Chemistry and Biochemistry. Women with Fragile X syndrome typically have IQs of about 70 to 80 (compared to the normal 100), but affected men generally have IQs of about 40. Additionally, about 7 percent of the females with Fragile X syndrome have autism as well, while about one in four men with Fragile X have both conditions. As Mihailescu discovered at the conference, the people who have Fragile X and their families face lifelong journeys of coping with the impacts.

One of Mihailescu's eight graduate and undergraduate student researchers, Sara Katrancha, has some idea of what families confront. Katrancha' s younger brother has a genetic disorder caused by a defective protein. "The similarities drew me to Fragile X," said Katrancha, a winner of the prestigious Goldwater Scholarship. "Essentially, I'm working on a project that nobody else has ever done, and I've found that the more questions we answer, the more questions arise. Coming to college, I didn't expect to be given this much responsibility but the opportunity has been life-changing."

For Mihailescu, developing the next generation of researchers is as important as decoding the Fragile X mystery.

"I think I'm successful if my students are successful," said Mihailescu. "It's rewarding for me to see that they do these things. This is the type of grant that we apply for at Duquesne-and it's for training students as well as for conducting research."

"By following Duquesne's teacher-scholar ideals, the Bayer School contributes to improved understanding and outcomes for those who live daily with conditions like Fragile X syndrome and adds to the body of knowledge that can be used by fellow researchers," said Dean David Seybert. "At the same time, we also serve the greater good by helping to train the next generation of leading researchers."

Watch Mihailescu and Katrancha talk about their research on video:http://www.youtube.com/duquesneuniversity.

Duquesne University

Founded in 1878, Duquesne is consistently ranked among the nation's top Catholic universities for its award-winning faculty and tradition of academic excellence. Duquesne, a campus of nearly 9,500 graduate and undergraduate students, has been nationally recognized for its academic programs, community service and commitment to sustainability. Follow Duquesne University on Facebook, Twitter and Instagram.