Drug reverses mental retardation caused by genetic disorder

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 June 22 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.