A potential biomarker for Autism Spectrum Disorders

Tech ID: 24395 / UC Case 2014-805-0

Brief Description

Intracellular calcium signaling is defective in Fragile X syndrome (FXS) and tuberous sclerosis (TS) as models for Autism Spectrum Disorders (ASD), therefore, calcium signal measurement could be potentially used as a diagnostic tool for ASD.

Full Description

Researchers at UC Irvine discovered that intracellular Ca2+ signaling is deficient in two monogenic models of ASD, and propose the cAMP signaling pathway as a possible pharmacological target. ASD is a complex heterogeneous disorder with poorly defined etiology; however, its high heritability suggests a strong genetic component. Considerable advances in understanding syndromic forms of ASD caused by single-gene mutations, such as FXS and TS. By a high throughput Ca2+ screening, the researchers tested five FXS and three TS patients’ skin fibroblast cell lines and demonstrated that the defect in Ca2+ release is present at the level of local Ca2+ signals that underlie the generation of global Ca2+ waves. They also provide evidence that manipulating intracellular levels of cAMP may serve to rescue Ca2+ signaling deficiency in the patients skin fibroblast cell lines.

Suggested uses

The high throughput screening for calcium signaling could be used as a diagnostic tool for ASD.

Advantages

-It is a non-invasive procedure. The patients skin fibroblast can easily obtained from the clinic.

-The calcium measurement assay is a high throughput and quantitative assay.

-It provides an early stage diagnostic tool for ASD. The patients could be tested as early as in their infancy.

Patent Status

Patent Pending

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