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Biolog’s PM Technology Unlocks Critical Clue in Understanding Autism

Published: Friday, June 07, 2013
Last Updated: Friday, June 07, 2013
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Discovery demonstrates advantage of metabolic over genetic screening.

Biolog, Inc. has announced a breakthrough in autism research made by using its advanced Phenotype MicroArray (PM) cell scanning technology.

In a paper published in the journal Molecular Autism, researchers from the Greenwood Genetic Center reported a 100 percent correlation (87/87) of decreased metabolism of L-tryptophan in individuals with Autism Spectrum Disorders or ASDs.

The metabolic alteration was not seen in 128/128 controls sampled from normal and other neurologically-impaired populations.

This is the first time L-tryptophan metabolism has been definitively linked to ASDs and this connection may lead to a better understanding of the biochemistry underlying ASDs and direct studies toward effective diagnosis and treatment.

"Autism is having a tremendous societal and financial impact with an alarming incidence rate, affecting approximately 1 in 50 school-aged children in the US. But the reasons behind the rise of this disorder remain a mystery to researchers," states Charles Schwartz, Ph.D., Director of Research at Greenwood Genetic Center and lead investigator.

Schwartz continued, “This critical discovery has important implications and applications, focusing future research on tryptophan metabolism as a possible basis for diagnosis and treatment of ASD. As tryptophan is a precursor to many important neurochemicals, changes in its metabolism could result from many genetic changes and explain why single gene association studies have been unsuccessful in providing an understanding of this disorder. We believe that these findings are just the beginning steps toward solving the multiple mysteries that make up ASDs.”

Using Biolog’s proprietary Phenotype MicroArray (PM) technology, Dr. Schwartz and Luigi Boccuto, M.D., Staff Scientist at Greenwood Genetic Center, measured metabolic pathway activities in transformed blood cells sampled from diverse populations and found that decreased metabolism of L-tryptophan was present in 100 percent of samples from patients with confirmed diagnosis of ASDs.

L-tryptophan is an amino acid that is converted to form many important neurochemicals including serotonin, kynurenine, kynurenic acid, and quinolinic acid.

These neurochemicals have potent effects on developing brains and an alteration in their production provides a hypothesis that could explain autism and lead to a treatment or an approach to prevention. In the shorter term, it may provide the basis for a blood test that could offer an early screening of ASDs.

"We are thrilled that Biolog’s PM technology helped Dr. Schwartz in this pioneering research and that it has led to this breakthrough discovery," said Barry Bochner, Ph.D., Chief Executive Officer at Biolog, Inc. (Hayward, CA).

Bochner continued, "PM technology provides high throughput phenotyping and metabolic scanning of cells, making it a powerful complement or alternative to genotyping studies. PM technology has great, untapped potential to enable additional breakthrough discoveries with other human disorders. Research laboratories are just beginning to adopt PM technology for research in diseases like diabetes, obesity and cancer."

"This success with ASDs suggests that Biolog's metabolic scanning technology may provide an invaluable technology for understanding the basis of other human disorders. We already have intriguing initial data on metabolic alterations with some other non-ASD neurological conditions such as somatic overgrowth and intellectual disability," added Dr. Boccuto.

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