High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder.

ABSTRACT: Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders without any defined uniting pathophysiology. Ca²⁺ signaling is emerging as a potential node in the genetic architecture of the disorder. We previously reported decreased inositol trisphosphate (IP₃)-mediated Ca²⁺ release from the endoplasmic reticulum in several rare monogenic syndromes highly comorbid with autism - fragile X and tuberous sclerosis types 1 and 2 syndromes. We now extend those findings to a cohort of subjects with sporadic ASD without any known mutations. We developed and applied a high throughput Fluorometric Imaging Plate Reader (FLIPR) assay to monitor agonist-evoked Ca²⁺ signals in human primary skin fibroblasts. Our results indicate that I

SUBMITTER: Schmunk G 

PROVIDER: S-EPMC5286408 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature