Potential brain biomarkers in patients with Autism spectrum syndrome

Abstract

Autism spectrum disorder (ASD) is referred as a cluster of neurodevelopmental disorders with relatively high incidence. ASD is believed to be a multifactorial condition, and genetics is one of the most important factors in its formation. Therefore, profiling gene expression in ASD patients can lead to the identification of new molecular insights. To evaluate gene expression patterns, we have utilized NCBI GEO microarray data. The dataset of ASD patients (GSE28475, GSE28521, GSE38322 and GSE113834) were defined as two meta-data, Total brain meta-data and Lobe specified meta-data. Meta-analysis and batch effect removal was conducted by the SVA package. Microarray data analysis was performed using the LIMMA package under R 4.2.1 software. Total Meta-Analysis (TMA) identified 525 significantly differentially expressed genes (DEGs) in ASD patient’s brain. The temporal and frontal lobes of ASD patients showed 96 and 23 DEGs respectively. Among the mentioned DEGs, there were 11 common DEGs between the temporal and frontal lobes that were also dysregulated in TMA except for UTP4 which was only dysregulated in the temporal and frontal lobes. However, the occipital and cerebellum lobes did not show any significant DEGs. Enrichment analysis pointed out the vital roles of identified DEGs in transmembrane transportation, ATP production, and cellular respiration. According to our findings, gene expression profile in the temporal and frontal lobes of ASD patients are significantly different than a control group. This aberrant gene expression potentially leads to crucial complications in nerve signal transmission and defects energy production in neurons. Therefore, potential therapeutic targets may be suggested based on these findings.