Thursday, July 10, 2008

Autism: Gene Disruption?

National Institute of Mental Health (NIMH) Press Release today:

"Common Mechanisms May Underlie Autism’s Seemingly Diverse Mutations"
"A research team led by Christopher Walsh, M.D., Ph.D., and Eric Morrow, M.D., Ph.D., of Harvard University, found two large sections missing on chromosomes in people with autism and traced them to likely inherited mutations in such genes regulated by neuronal activity. They report their findings in the July 11, 2008 issue of Science.

The study breaks new ground for complex disorders like autism, taking advantage of a shortcut to genetic discovery by sampling families in which parents are cousins. The researchers found genes and mutations associated with autism in 88 families from the Middle East, Turkey and Pakistan in which cousins married and had children with the disorder."

Associated Press tried to put through the good news about this finding:

“.......the missing DNA didn't always translate into missing genes. Instead what usually was missing were the on/off switches for these autism-related genes. Essentially, some genes were asleep instead of doing their synapse work.”

Walsh agreed: "Autism symptoms emerge at an age when the developing brain is refining the connections between neurons in response to a child's experience, whether or not certain important genes turn on is thus dependent on experience-triggered neural activity. Disruption of this refinement process may be a common mechanism of autism-associated mutations."

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