Word: hagermans
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...exciting news is that such drugs are already being tested. Hagerman and a team at Chicago's Rush University Medical Center have begun trials with a drug called fenobam, originally designed as an antianxiety medication. MIT's Bear expects to begin trials with two other compounds later this year. The drugs target a receptor on brain cells that the fragile X protein normally helps regulate; the receptor, in turn, regulates proteins involved in learning and memory. "We're looking at a medication to reverse the retardation," says the optimistic Hagerman, "and I think we can achieve...
...after age 50. Cindy Mitchell of Huntington Beach, Calif., is haunted by her father's death from the disease two years ago. "He wasted away to 80 lb. He couldn't walk, couldn't keep food down," she says. I met Mitchell, 37, and her husband Bob, 41, at Hagerman's clinic, where they had taken their two sons for evaluation. Mason, 6, has FXS, and Noah, 8, is a carrier, like his mom. Among Mitchell's worries is that she'll die the way her father did, though fewer than 10% of female carriers seem to develop the disease...
...differently from the ones used to treat fragile X syndrome because the biology of the disease is different too. In fragile X, the key gene is silent; in FXTAS patients, it's too active. "The gene produces up to 10 times more message than normal," explains molecular biologist Paul Hagerman of the University of California at Davis, who together with wife Randi has received an NIH grant to study the disorder. Over time, messenger RNA--the substance that transcribes genes into proteins--accumulates in the nuclei of brain cells, eventually poisoning them...
...scientists work out the molecular pathways that may someday cure FXS and FXTAS, clinicians at more than a dozen centers around the country are devising ways to improve life for affected families. Children with FXS are referred to programs that offer language services, occupational therapy and special education. Randi Hagerman is a believer in drugs to treat anxiety and hyperactivity. For patients with FXTAS, she prescribes exercise and medications already used to treat Parkinson's and Alzheimer's disease...
...research becomes more advanced, the Hagermans hope that more people with suspicious symptoms will choose to be tested for the fragile X mutation and premutation. Many families with an autistic child resist, not wanting to learn that the cause is genetic, but Paul Hagerman urges them to look at things another way. The day is rapidly approaching, he believes, when autism caused by fragile X will be known as the "treatable type...