Biomarker for autism diagnostics found

A fault in the channel of cells related to release of calcium in brain may be linked to certain forms of autism and serve both as a potential biomarker for diagnosing the disorder as well as a potential therapeutic target, new research has found.

In the brain, calcium is used to communicate information within and between neurons, and it activates a host of other cell functions, including ones regulating learning and memory, neuronal excitability and neurotransmitter release - areas known to be dysfunctional in autism spectrum disorders (ASD).

"We believe this finding will be another arrow in the quiver for early and accurate diagnoses of autism spectrum disorders," said one of the researchers J Jay Gargus from University of California, Irvine in the US. "Equally exciting, it also presents a target of a molecular class already well-established to be useful for drug discovery," Gargus noted.

There are also no current, reliable diagnostic biomarkers for ASD. Genetic research has identified hundreds of genes that are involved, which impedes diagnosis and, ultimately, drug development. There simply may be too many targets, each with too small an effect. In this study, researchers found that defects in a channel called IP3R that controls the release of calcium from cell membranes could be the key to ASD diagnosis.

"We propose that the proper function of this channel and its signaling pathway is critical for normal performance of neurons and that this signaling pathway represents a key 'hub' in the pathogenesis of ASD," Ian Parker, professor at University of California, Irvine, noted. (The study appeared online in the journal Translational Psychiatry.)

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