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Autism discovery paves way for early blood test and therapeutic options
Date:6/6/2013

Greenwood, SC (June 5, 2013) - Researchers at the JC Self Research Institute of the Greenwood Genetic Center (GGC), along with collaborators from Biolog, Inc. in California, have reported an important discovery in the understanding of autism which was published this week in Molecular Autism.

The study, led by GGC's Director of Research, Charles Schwartz, PhD and Staff Scientist, Luigi Boccuto, MD, found that individuals with autism spectrum disorders (ASDs) showed significantly decreased metabolism of the amino acid L-tryptophan when compared to both typical controls and individuals with other neurodevelopmental disorders. Cells from individuals with autism metabolized L-tryptophan at a decreased rate whereas cells from individuals without autism did not show this change.

Researchers also measured the expression of genes that are known to be involved in L-tryptophan metabolism in a small subset of patients with autism and found they also expressed some of the genes at lower levels than those without autism.

"The important and immediate implication of this work is the development of a simple, early blood screening test for autism by measuring the metabolism of L-tryptophan using Biolog's technology," shared Dr. Boccuto. Biolog's assay method, called Phenotype MicroArray technology, allows researchers to measure the ability of cells to generate energy from various biochemical nutrients, including L-tryptophan.

Currently there are no laboratory tests that can accurately diagnose ASDs, which are estimated to affect 1 in 50 school-aged children in the US. Current diagnosis depends upon a developmental evaluation and parent interviews and can often not be made prior to 2-3 years of age. "A screening, and eventually, a diagnostic blood test for autism would be of immense value to families," explained Dr. Schwartz. "An early, accurate diagnosis is key to providing effective and timely therapies for these patients and thei
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Contact: Lori Bassett
lbassett@ggc.org
864-388-1061
Greenwood Genetic Center
Source:Eurekalert

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