The Autism Society of Alabama has been helping people with autism and their families for more than ten years. The ASA offers counseling for the autistic person and their families, job opportunity placement for autistic persons, and is the primary state advocate for the autistic.
New research has developed the first potential drug treatment that shows the promise of reversing the symptoms of autism.
The majority of people with Timothy syndrome display the symptoms of autism dramatically. Timothy syndrome is known to be a genetic condition caused by mutation.
The researchers took samples of skin tissue from Timothy syndrome patients and converted them to into stem cells that were induced to form neurons (brain cells). These neurons demonstrated an overproduction of two of the brain’s chemical messengers, dopamine and norepinephrine. There was also a decrease in communication between the two hemispheres of the brain.
The first discovery the scientists made was that the calcium channels in the brain lost their ability to shut off. This accounts for the higher levels of dopamine and norepinephrine. The neurons that were grown in the lab produced too much of an enzyme that triggers the production of dopamine and norepinephrine and that malfunction is demonstrated by a higher level of calcium.
The enzyme upsurge was reversible using roscovitine a drug that contains a chemical that blocks the defective calcium channels. The result was a 70 percent reduction in the proportion of cells producing the enzyme, confirming the defective calcium channel was the culprit in producing too much dopamine and norepinephrine.
Roscovitine is not as yet FDA approved but is in clinical trials for the treatment of some forms of cancer. The researchers propose using roscovitine as a starting point for the development of drug treatments that perform the same function in autism.
Postdoctoral scholar Sergiu Pasca, MD, and Ricardo Dolmetsch, PhD, associate professor of neurobiology at Stanford University School of Medicine led the research that included the work of postdoctoral scholars Thomas Portmann, PhD, Masayuki Yazawa, PhD, and Oleksandr Shcheglovitov, PhD; clinical researcher Anca Pasca, MD; neurology researcher Branden Cord MD, PhD; associate professor of neurosurgery Theo Palmer, PhD; Sachiko Chikahisa, PhD, and research professor of psychiatry and behavioral sciences Nishino Seiji, MD, PhD, both of the Sleep and Circadian Neurobiology Laboratory; clinical assistant professor of medical genetics Jonathan Bernstein, MD, PhD; associate professor of psychiatry and behavioral sciences Joachim Hallmayer, MD. and researchers from UCLA.
The research was published in the November 27, 2011, journal Nature Medicine and was reviewed at the Eureka Alert web site.