Functional Characterization of CSDE1 Missense Variants in Autism Spectrum Disorder

Claire Hynes
Undergraduate Student (Honours)
Department of Biochemistry


Date: December 4, 2023
Time: 1:00 p.m. to 2:00 p.m. 
Room: CSF 1302

Autism Spectrum Disorders (ASD) are a group of neurodevelopmental disorders characterized by behavioral abnormalities, such as communication deficits, restricted interests, repetitive behaviors, and often, intellectual disability and language delay. Several factors are believed to be involved in ASD, of particular interest is the hereditary component. CSDE1 is an ASD risk gene, as disruptive variants of CSDE1 have been associated with ASD in children and young adults. CSDE1 is an RNA-binding protein (RBP) that has been implicated in synapse development and transmission, whose dysfunction is the neurological symptom of ASD. However, molecular details governed by CSDE1 in ASD are currently unknown. Here, we show altered expression of synapse related genes in patient-derived skin fibroblasts with a CSDE1 missense mutation, suggesting a potential mechanism of action by CSDE1. Additionally, western blot analysis revealed changes in the expression of proteins associated with the miRNA pathway, namely, AGO2 and Dicer. Since, the expression of these proteins is controlled by CSDE1 and they function in miRNA-mediated gene regulation, studying the link these synapse related genes and the microRNA pathway components may unravel a novel pathophysiological mechanism controlled by CSDE1 in ASD pathology and aid in the development of new treatment strategies