Featured Research

from universities, journals, and other organizations

Autism discovery paves way for early blood test and therapeutic options

Date:
June 6, 2013
Source:
Greenwood Genetic Center
Summary:
Cells from individuals with autism spectrum disorders showed significantly decreased metabolism of the amino acid L-tryptophan, new research shows. The article shows promise for understanding the mechanism of the pathogenesis, as well as developing an early ASDs screening test by measuring the metabolism of L-tryptophan using advanced Biolog Phenotype MicroArray cell scanning technology.

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, (left) and Staff Scientist, Luigi Boccuto, MD, (right) 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.


Story Source:

The above story is based on materials provided by Greenwood Genetic Center. Note: Materials may be edited for content and length.


Journal Reference:

  1. Luigi Boccuto, Chin-Fu Chen, Ayla R Pittman, Cindy D Skinner, Heather J McCartney, Kelly Jones, Barry R Bochner, Roger E Stevenson, Charles E Schwartz. Decreased tryptophan metabolism in patients with autism spectrum disorders. Molecular Autism, 2013; 4 (1): 16 DOI: 10.1186/2040-2392-4-16

Cite This Page:

Greenwood Genetic Center. "Autism discovery paves way for early blood test and therapeutic options." ScienceDaily. ScienceDaily, 6 June 2013. <www.sciencedaily.com/releases/2013/06/130606102037.htm>.
Greenwood Genetic Center. (2013, June 6). Autism discovery paves way for early blood test and therapeutic options. ScienceDaily. Retrieved July 28, 2014 from www.sciencedaily.com/releases/2013/06/130606102037.htm
Greenwood Genetic Center. "Autism discovery paves way for early blood test and therapeutic options." ScienceDaily. www.sciencedaily.com/releases/2013/06/130606102037.htm (accessed July 28, 2014).

Share This




More Mind & Brain News

Monday, July 28, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Losing Sleep Leaves You Vulnerable To 'False Memories'

Losing Sleep Leaves You Vulnerable To 'False Memories'

Newsy (July 27, 2014) A new study shows sleep deprivation can make it harder for people to remember specific details of an event. Video provided by Newsy
Powered by NewsLook.com
University Quiz Implies Atheists Are Smarter Than Christians

University Quiz Implies Atheists Are Smarter Than Christians

Newsy (July 25, 2014) An online quiz from a required course at Ohio State is making waves for suggesting atheists are inherently smarter than Christians. Video provided by Newsy
Powered by NewsLook.com
Beatings and Addiction: Pakistan Drug 'clinic' Tortures Patients

Beatings and Addiction: Pakistan Drug 'clinic' Tortures Patients

AFP (July 24, 2014) A so-called drugs rehab 'clinic' is closed down in Pakistan after police find scores of ‘patients’ chained up alleging serial abuse. Duration 03:05 Video provided by AFP
Powered by NewsLook.com
New Painkiller Designed To Discourage Abuse: Will It Work?

New Painkiller Designed To Discourage Abuse: Will It Work?

Newsy (July 24, 2014) The FDA approved Targiniq ER on Wednesday, a painkiller designed to keep users from abusing it. Like any new medication, however, it has doubters. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins