The diagnosis of Autism Spectrum Disorder (ASD), and thus the development of therapies, is very challenging due to the lack of objective criteria and biomarkers. It is, however, a disease with a strong genetic component, and recent data has implicated new genes in the disease.
Researchers at UC Irvine have developed a method to more reliably diagnose ASD with a laboratory test.
Autism spectrum disorder (ASD) affects 2% of children. There currently exists no reliable, quantitative diagnosis method. Recent studies have unveiled the role of disrupted calcium signaling in cells of ASD patients. UCI researchers have observed depressed Ca2+ release through inositol triphosphate receptors (IP3Rs) in cells derived from ASD-affected patients. IP3Rs are utilized in many fundamental cellular processes, including neuronal excitability, synaptic plasticity, gene expression and neurodevelopment. Thusly, their abnormal activity may be the key to understanding the etiology of ASD.
The invention herein is for a method for detecting ASD via IP3R-mediated calcium signaling. This screening tool may be used as an early detection method for individuals susceptible to ASD, as well as a high-throughput research tool for assessing potential pharmaceutical therapies.
Diagnostic and research tool for Autism Spectrum Disorder (ASD)
The inventors have observed IP3-induced Ca2+ signaling in fibroblasts derived from patients affected with fragile X syndrome (FXS), tuberous sclerosis (TSC1 and TSC2), as well as non-syndromic forms of ASD.
Effective and reliable ASD diagnostic tool
§ Quantitative, biologic-based assay
§ Simple, non-invasive method that allows for early diagnosis
§ Produces non-subjective results, as in behavioral assessments, but also may be used in conjunction with behavioral testing
|Patent Cooperation Treaty||Reference for National Filings||2017027412||02/16/2017||2016-121|