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...scans help doctors detect everything from cancer to kidney stones. But some physicians are raising concerns about the safety of such procedures - most notably, an increase in cancer risk. A CT scan packs a mega-dose of radiation - as much as 500 times that of a conventional X-ray. If your doctor orders a CT scan for you or your child, should you think twice...
...gene involved in all these disorders codes for a critical brain protein known as the fragile X mental-retardation protein (FMRP). This protein normally acts as a brake on the production of other proteins associated with learning and memory. But when more than 200 CGG repeats are present, the gene for FMRP tends to shut down and production of the other proteins spins out of control. The brain develops too many connections, or synapses, many of them immature and flimsy. The resulting symptoms range from learning disorders to mental retardation and often include autism, epilepsy, anxiety disorders and attention-deficit...
...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...
Drugs to treat this adult-onset condition would have to work 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...
...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...