Thursday, June 28, 2007

Revving Up the Autism Knowledge Revolution

We are living in a revolutionary era. The hardware era is giving away to the software age, and as a result, the economic and social landscape of the world is undergoing seismic changes.

The Knowledge Revolution, Noel M. Tichy, Ph.D., 2002

On March 18 2007 in "The Autism Knowledge Revolution" I commented on the revolution in autism knowledge currently taking place. As impressive as the Autism Knowledge Revolution, the "AKR" appeared just 3 short months ago it appears that the AKR is proceeding at an even more explosive pace then I had thought at that time. Since that post the world has been made aware of the protein/neuroligin study by Davide Comoletti1, Alexander Grishaev, Andrew E. Whitten, Igor Tsigelny, Palmer Taylor and Jill Trewhella published in a recent issues of Structure in which the authors "developed structural models that delineate the spatial arrangements of different neuroligin domains and their partnering molecules. As mutations of neurexin and neuroligin genes appear to be linked to autism, these models provide a structural framework for understanding altered recognition by these proteins in neurodevelopmental disorders."

Just this week Hayashi et al reported in their study that "FXS is tied to a mutated X chromosome gene called the fragile X mental retardation 1 ( FMR1) gene. When this gene is mutated, it can cause mild learning disabilities to severe autism.

"Our study suggests that inhibiting a certain enzyme in the brain could be an effective therapy for countering the debilitating symptoms of FXS in children, and possibly in autistic kids as well". One of the study's authors, Tonegawara, even offered the possibility of reversal of symptoms after the symptoms are pronounced. "Notably, due to an elegant genetic manipulation of method employed by the Picower Institute researchers, PAK inhibition in the FXS mice did not take place until a few weeks after appearance of disease symptoms. This implies that future treatment may still be effective even after symptoms are already pronounced,"

At present there is no cure for autism. Nor is there a biomedical treatment for reversing the symptoms of autism. The Autism Knowledge Revolution, and the breathtaking pace at which it is proceeding, is increasingly offering hope that cures and treatments for autism may not be as far off as once thought. As a father of an autistic 11 year old boy with Autism Disorder with pronounced developmental delays I hope that some of that knowledge will be converted into treatments which will help my son with his serious autism deficits. But if that does not happen, I still hope that other autistic children, will some day soon benefit directly from the Autism Knowledge Revolution.

No comments: