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

Country Type Number Dated Case
United States Of America Issued Patent 10,802,029 10/13/2020 2014-805
 

Additional Patent Pending

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