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:6/15/2016)... New York , June 15, 2016 /PRNewswire/ ... a new market report titled "Gesture Recognition Market by ... and Forecast, 2016 - 2024". According to the report, ... USD 11.60 billion in 2015 and is estimated ... reach USD 48.56 billion by 2024.  ...
(Date:6/7/2016)... -- Syngrafii Inc. and San Antonio Credit Union (SACU) ... Syngrafii,s patented LongPen™ eSignature "Wet" solution into SACU,s ... in greater convenience for SACU members and operational ... document workflow and compliance requirements. Logo ... Highlights: ...
(Date:6/2/2016)... The Weather Company , an IBM Business (NYSE: IBM ... which consumers will be able to interact with IBM Watson ... or text and receive relevant information about the product or ... long sought an advertising solution that can create a one-to-one ... valuable; and can scale across millions of interactions and touchpoints. ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... June 23, 2016 /PRNewswire/ - FACIT has announced ... biotechnology company, Propellon Therapeutics Inc. ("Propellon" ... commercialization of a portfolio of first-in-class WDR5 inhibitors ... such as WDR5 represent an exciting class of ... precision medicine for cancer patients. Substantial advances have ...
(Date:6/23/2016)... SANTA MONICA, Calif. , June 23, 2016  The Prostate Cancer ... to pioneer increasingly precise treatments and faster cures for prostate cancer. Members of ... 77 institutions across 15 countries. Read More About the ... ... ...
(Date:6/23/2016)... ... June 23, 2016 , ... STACS DNA Inc., the sample ... the Arkansas State Crime Laboratory, has joined STACS DNA as a Field Application Specialist. ... said Jocelyn Tremblay, President and COO of STACS DNA. “In further expanding our capacity ...
(Date:6/23/2016)... LONDON , June 23, 2016 ... & Hematology Review, 2016;12(1):22-8 http://doi.org/10.17925/OHR.2016.12.01.22 ... Review , the peer-reviewed journal from touchONCOLOGY, ... the escalating cost of cancer care is placing ... a result of expensive biologic therapies. With the ...
Breaking Biology Technology: