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Drug reverses mental retardation caused by genetic disorder
Date:6/22/2008

UCLA researchers discovered that an FDA-approved drug reverses the brain dysfunction inflicted by a genetic disease called tuberous sclerosis complex (TSC). Because half of TSC patients also suffer from autism, the findings offer new hope for addressing learning disorders due to autism. Nature Medicine publishes the findings in its online June 22 edition.

Using a mouse model for TSC, the scientists tested rapamycin, a drug approved by the FDA to fight tissue rejection following organ transplants. Rapamycin is well-known for targeting an enzyme involved in making proteins needed for memory. The UCLA team chose it because the same enzyme is also regulated by TSC proteins.

"This is the first study to demonstrate that the drug rapamycin can repair learning deficits related to a genetic mutation that causes autism in humans. The same mutation in animals produces learning disorders, which we were able to eliminate in adult mice," explained principal investigator Dr. Alcino Silva, professor of neurobiology and psychiatry at the David Geffen School of Medicine at UCLA. "Our work and other recent studies suggest that some forms of mental retardation can be reversed, even in the adult brain."

"These findings challenge the theory that abnormal brain development is to blame for mental impairment in tuberous sclerosis," added first author Dan Ehninger, postgraduate researcher in neurobiology. "Our research shows that the disease's learning problems are caused by reversible changes in brain function -- not by permanent damage to the developing brain."

TSC is a devastating genetic disorder that disrupts how the brain works, often causing severe mental retardation. Even in mild cases, learning disabilities and short-term memory problems are common. Half of all TSC patients also suffer from autism and epilepsy. The disorder strikes one in 6,000 people, making it twice as common as Huntington's or Lou Gehrig's disease.


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Contact: Elaine Schmidt
eschmidt@mednet.ucla.edu
310-794-2272
University of California - Los Angeles
Source:Eurekalert

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