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Blood biomarkers for autism spectrum disorder identified

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www.ProHealth.com • March 20, 2012

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“This novel set of biomarkers allows for a reliable blood-based diagnostic tool that may be used in diagnosis and potentially in prognosis of autism spectrum disorder.”

To date there have been no acknowledged biomarkers for autism spectrum disorder. But now three “differentially expressed peptides” that show promise as potential biomarkers have been discovered in the blood plasma of children with autism, according to new research by a team of scientists at Linnaeus and Uppsala Universities in Sweden and the Faculty of Medicine in Tehran, Iran. 

Using advanced mass spectrometric methods to conduct a protein analysis of blood plasma samples from 32 children with ADS (specifically infantile/Kanner syndrome) and 28 neurologically healthy control children, the researchers were able to identify different expressions of three peptides - fragments of an immune system protein known as complement factor C3 -  that discriminated the ASD children from the controls.

According to the spectrometric array, which can depict or map the amounts/mass of different components in a sample, two of the peptides were upregulated and over-represented in the ASD children vs controls, and one peptide was downregulated vs controls. For detail see the full text article (“A novel blood-based biomarker for detection of autism spectrum disorders”) published Mar 13 by Nature Translational Psychiatry.

Though the study sample is small, “the results indicate the potential of our methodological strategy,” says co-author Jonas Bergquist, professor of analytical chemistry and neurochemistry at Uppsala University. “There is already a known connection between this protein and ASD, which further reinforces the findings.”

The Importance of Peptide Analysis

Many diseases are caused by protein alterations inside and outside the body’s cells, the researchers note. By studying protein patterns in tissue and body fluids, these alterations can be mapped to provide important information about underlying causes of disease. And sometimes protein patterns can also serve as biomarkers to enable diagnosis or as a prognosticating tool to monitor the development of a disease.

In this work the researchers were focused on peptides relating to disruptions of the nervous system. The hope is that this new set of biomarkers ultimately will lead to a reliable blood-based diagnostic tool.

Facts About ASD

Autism spectrum disorder is a collective name for neuropsychiatric disturbances that lead to functional impairment in at least two of the three areas that characterize autism:

- Reciprocal social interaction

- Reciprocal verbal and non-verbal communication

- Imagination and behavior.

Autism spectrum disorder encompasses:

- Autism

- Asperger’s syndrome

- Disintegrative disorder (Heller’s syndrome)

- Atypical autism

The study was funded by the Swedish Research Council, among other financiers.

Source: Based on Uppsala University press release, Mar 23, 2012; research report “A novel blood-based biomarker for detection of autism spectrum disorders,” Nature Translational Psychiatry, Mar 13, 2012, M Momeni, et al.


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