Navigation Links
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 their families."

Dr. Boccuto added, "We also see tremendous potential that these findings will aid in our understanding of the molecular and metabolic bases of autism. Once we have a clear vision of what has gone awry within the tryptophan metabolism pathways, we can develop therapies to target and correct those problems at the biochemical level."

L-tryptophan is one of twenty amino acids used by cells to make protein. It is one of eight amino acids that cannot be made by the body, so it must be obtained from the diet. More importantly, L-tryptophan plays an important role in brain development and function as it is the precursor of key neurochemicals such as serotonin and melatonin which have already been linked to behavioral and neurodevelopmental problems.

"This discovery leads us toward a possible unifying biochemical mechanism for ASDs which could ultimately lead to a treatment," shared Dr. Schwartz. "Now that we have additional evidence that the features of ASDs may be related to the metabolic pathways involving L-tryptophan, we can focus further studies on determining at what point along those pathways the disruption occurs, which may vary from one patient to another. With treatments that target various points along the pathway, a modality that works for one patient may not work for another."

GGC's autism research has been supported by funds from the South Carolina Department of Disabilities and Special Needs. Additional funding has been obtained from the National Institutes of Health to explore transitioning the research finding into a simple blood test for autism. Drs. Schwartz and Boccuto are currently evaluating the tryptophan metabolism in fresh blood samples from patients with ASDs and controls, utilizing customized Biolog plates.

"We are thrilled that Biolog's technology helped Dr. Schwartz in his pioneering research and that it has led to this breakthrough discovery," said Barry Bochner, PhD, CEO at Biolog, Inc.


'/>"/>

Contact: Lori Bassett
lbassett@ggc.org
864-388-1061
Greenwood Genetic Center
Source:Eurekalert

Related biology news :

1. Over-produced autism gene alters synapses, affects learning and behavior in mice
2. Bigger birth weight babies at greater risk of autism
3. Epigenetic changes shed light on biological mechanism of autism
4. In autism, age at diagnosis depends on specific symptoms
5. Autism in black and white: NIH grant helps scientist study disorder in African Americans
6. Atypical brain circuits may cause slower gaze shifting in infants who later develop autism
7. Folic acid lowers risk of autism
8. Speech emerges in children with autism and severe language delay at greater rate than thought
9. Ultrasound reveals autism risk at birth
10. Researcher uncovers potential cause, biomarker for autism and proposes study to investigate theory
11. UCI research turns the corner on autism
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/20/2017)... , July 20, 2017 Delta (NYSE: DAL ... board any Delta aircraft at Reagan Washington National Airport (DCA). ... Delta launches biometrics to ... Delta,s biometric ... Sky Club is now integrated into the boarding process to allow ...
(Date:6/14/2017)... , June 15, 2017  IBM (NYSE: IBM ) ... international tech event dedicated to developing collaboration between startups and ... on June 15-17. During the event, nine startups will showcase ... value in various industries. France ... the international market, with a 30 percent increase in the ...
(Date:5/16/2017)... DALLAS , May 16, 2017   ... for health organizations, and MD EMR Systems ... certified development partner for GE, have established a ... Patient Portal product and the GE Centricity™ products, ... Centricity EMR. These new integrations ...
Breaking Biology News(10 mins):
(Date:8/11/2017)... ROCKVILLE, Md. , Aug. 11, 2017 ... in a New York Times article regarding ... 9.2 billion, according to Kalorama Information.  The ... an App for That"  used information ... Remote Patient Monitoring & Telemedicine Market  (Sleep, ...
(Date:8/10/2017)... (PRWEB) , ... August 09, 2017 , ... ... to help the agriculture industry reach its ideal customers with the right message. ... nation. , “As a Midwest company, we realize how crucial the agriculture industry ...
(Date:8/10/2017)... ... , ... Okyanos Center for Regenerative Medicine has announced its First Annual ... Grand Bahama on September 27, 2017. This daytime event is free to attend, however ... of Health’s National Stem Cell Ethics Committee (NSCEC) and regulations laid out in the ...
(Date:8/10/2017)... ... August 10, 2017 , ... CNA ... outlet had initiated coverage on Next Group Holdings, Inc. and see's significant opportunity ... geared toward those that cannot engage in traditional banking services. According to industry ...
Breaking Biology Technology: