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UCI Researcher Finds Biological Markers for Autism

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Researchers at the UC Irvine Center for Autism Research and Translation believe they have found a possible biological marker for diagnosing certain forms of autism.

While examining skin samples of patients with autism spectrum disorder, Dr. J. Jay Gargus, Ian Parker and other fellow researchers discovered altered signal processes in the skin cells.

“We believe this finding will be another arrow in the quiver for early and accurate diagnoses of autism spectrum disorders,” said Dr. Gargus, the director for the Center for Autism Research and Translation in a press release. “Equally exciting, it also presents a target of a molecular class already well-established to be useful for drug discovery.”

UC Irvine researchers first happened upon this discovery by locating a defect in a calcium channel known as IP3R in the endoplasmic reticulum, an organelle responsible for transporting materials throughout the cell.

The calcium channel IP3R regulates the release of calcium from the endoplasmic reticulum to the brain.

Calcium allows the communication and movement of information between neurons, impulse-conducting cells in the nervous system. Additionally, calcium activates other cell functions such as those controlling learning, memory and excitability of neurons. However,  these functions are inhibited in patients with autism spectrum disorder, indicating an irregularity in the IP3R calcium channel.

“We propose that the proper function of this [calcium] channel and its signaling pathway is critical for the normal performance of neurons,” said in a press release Dr. Parker.

There are currently no reliable biological diagnostic markers for autism spectrum disorder. With hundreds of possible genes responsible for the development of autism,  researchers hold there are simply too many targets.

Additionally, attempting to mend or adjust these genes would only have a minimal impact towards a patient’s recovery. This slows down accurate diagnoses and possible cures through drug development.

Despite a lack of clear-cut answers, scientists have been able to associate many of the discovered genes with a signaling pathway in cells.

Dr. Gargus and Parker believe this defect in the IP3R calcium channel within the pathway may function as a point convergence among all the genes, leading to significant mental changes in patients with ASD.

With this new discovery, clinical researchers at the Center for Autism and Neurodevelopmental Disorders, an affiliate with the Center for Autism Research and Translation, are expanding the study of this calcium channel.

These researchers are currently examining whether children with and without autism spectrum disorder have similar calcium signaling irregularities. Today, 2% of all American children are diagnosed with autism spectrum and other neurological developmental disorders.

UC Irvine researchers and scientists believe that the restoration of the proper regulation of calcium from its IP3R channel can hinder mental hyperexcitability, a symptom found in patients with ASD, and  thus reduce mental disorders from developing in children.