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.
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.
The high throughput screening for calcium signaling could be used as a diagnostic tool for ASD.
-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.
|United States Of America||Issued Patent||10,802,029||10/13/2020||2014-805|
Additional Patent Pending