Transcriptional analysis of human cell organoids for the identification of gene signatures associated with Autism Spectrum Disorder

Autism Spectrum Disorder (ASD) is a disorder that affects the neurological system during the developmental stage due to environmental, neurobiological, or genetic factors, leading to deficits in social communication, repetitive and stereotyped behaviors. Several groups of ASD are identified based on head circumference (macrocephaly and normocephaly) or on the onset of symptoms (early onset and regression). The aims of this study were to compare the genetic expression of cell organoids from one individual with ASD and two healthy controls, and identify genes involved in this disorder. to achieve these goals, Single-cell RNA sequencing (scRNA-seq) datasets generated from organoids developed from induced pluripotent stem cell (iPSC) lines constructed with peripheral blood of two normal controls and one individual with ASD selected from the Jiangsu Birth Cohort Study (JBC) were analyzed using Seurat package version 5.2.1. The results show that several genes are overexpressed (NEUROD6, NNAT, PCDHB5, B3GAT2…), and others are down expressed (LDOC1, CHCHD2, BST2, PMEL…) in ASD cells compared to normal controls. These genes could be of great interest to develop potential biomarkers for the early diagnosis of ASD, for defining an action plan to address this disorder.