UCLA researchers have discovered that an FDA-approved drug reverses the brain dysfunction inflicted by a genetic disease known as tuberous sclerosis complex, or TSC. And because half of TSC patients also suffer from autism, the findings offer new hope for addressing learning disorders associated with autism. The findings appear in the online edition of the journal Nature Medicine.
 
TSC is a devastating genetic disorder that disrupts brain function, often causing severe mental retardation. Even in mild cases, learning disabilities and short-term memory problems are common.
 
Using a mouse model for TSC, UCLA scientists tested rapamycin, a drug approved by the federal Food and Drug Administration to fight tissue rejection following organ transplants. Rapamycin is well known for targeting an enzyme involved in the production of proteins needed for memory. The UCLA team chose the drug 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," said principal investigator Dr. Alcino Silva, professor of neurobiology and psychiatry at the David Geffen School of Medicine at UCLA. "The same mutation in animals produces learning disorders, which we were able to eliminate in adult mice. Our work and other recent studies suggest that some forms of mental retardation can be reversed, even in the adult brain."

Release date: June 22, 2008
Source: University of California, Los Angeles