Hayward, CA (PRWEB) June 05, 2013
Discovery Demonstrates Advantage of Metabolic over Genetic Screening
Biolog, Inc., creator of powerful cell analysis technologies for biomedical research and development, announced today 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. “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). “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.
About the Study
This study was funded by the National Institute of Mental Health and the South Carolina Department of Disabilities and Special Needs. Biolog’s PM technology enabled this important discovery by accurately measuring the ability of cells to generate metabolic energy from a set of 367 biochemical nutrients. Dr. Boccuto in the Schwartz lab at Greenwood started the study by performing the PM metabolic scans on lymphoblastoid cell lines created from white cells taken from 17 patients with ASDs and compared the results against 18 patients without ASDs. He noted that cells from ASD patients had decreased metabolism of L-tryptophan and peptides containing L-tryptophan. Cells taken from patients without ASDs did not show this change. Subsequently, the study was broadened to include a total of 87 ASD samples with the predictive correlation remaining at 100 percent. As further support of this discovery, the authors measured the relative expression of genes involved in L-tryptophan metabolism pathways and found that some of these were also decreased in cells from 10 ASD patients.
About Phenotype MicroArray Technology
Phenotype MicroArray technology was developed initially for basic research in microbial cells with SBIR funding from the National Institute of General Medical Sciences. Subsequently, the technology was extended to work in human and other animal cells with funding from the National Cancer Institute and the National Institute of Mental Health. The technology provides a metabolic and phenotypic scan of cells. Unlike metabolomic analysis that typically employs mass spectrometry to measure the pool levels of metabolites in cells, PM technology's phenomic analysis actually measures metabolic flux rates of various cellular pathways using a universal readout of cellular energy production. One important application is in cancer research, where PM technology can be used to study metabolic reprogramming (the Warburg effect) and the relationship between changes in oncogenes and changes in energy metabolism. A second application is in diabetes and obesity research, where shifts in energy metabolism are important in determining when and how cells burn or store calories. Energy metabolism changes are also fundamental to understanding chemical toxicity, mitochondrial dysfunction and aging. Additionally, PM technology can be a productive tool for optimizing industrial bioprocesses where cells use energy to grow and produce a desired product such as an antibody or vaccine.
About Biolog, Inc.
Biolog is a privately-held company based in Hayward, CA, that continues to lead in the development of powerful new cell analysis tools for solving critical problems in biological, pharmaceutical, and biotechnological research and development. It is the world leader in phenotypic cell profiling. Biolog’s advanced phenotypic analysis technology is unique in its broad applicability to cells – this includes bacterial cells and fungal cells as well as animal cells. More than 260 scientific publications and presentations document the effectiveness and productivity of PM technology. The PM product line adds to the innovative microbial identification products offered by the company, such as the new GEN III System. Biolog products are available worldwide, either directly from the company or through its extensive network of international distributors. Further information can be obtained at Biolog's website, http://www.biolog.com.
About Greenwood Genetic Center
The Greenwood Genetic Center (GGC), founded in 1974, is a nonprofit organization advancing the field of medical genetics and caring for families impacted by genetic disease and birth defects. At its home campus in Greenwood, SC, a talented team of physicians and scientists provides clinical genetic services, diagnostic laboratory testing, educational programs and resources, and research in the field of medical genetics. GGC’s faculty and staff are committed to the goal of developing preventive and curative therapies for the individuals and families they serve. GGC extends its reach as a resource to all residents of South Carolina with satellite offices in Charleston, Columbia, Florence and Greenville. For more information about GGC please visit http://www.ggc.org.