Genomic Strategies for Understanding the Pathophysiology of Autism Spectrum Disorder

• Published in: Frontiers in molecular neuroscience Vol. 15; p. 930941
• Main Authors: Doi, Miyuki, Li, Mengwei, Usui, Noriyoshi, Shimada, Shoichi
• Format: Journal Article
• Language: English
• Published: Lausanne Frontiers Research Foundation 24-06-2022; Frontiers Media S.A
• Subjects: animal model; Animal models; Autism; autism spectrum disorder (ASD); Brain research; cellular model; Chromosome aberrations; Communication; DNA methylation; Environmental factors; Epigenetics; gene; Gene expression; Gene loci; Genomes; Genomics; Molecular Neuroscience; Mutation; Neurodevelopmental disorders; Ontology; Pathogenesis; Pathophysiology; R&D; Research & development; Twins
• ISSN: 1662-5099; 1662-5099
• DOI: 10.3389/fnmol.2022.930941

Recent breakthroughs in sequencing technology and technological developments have made it easier to analyze the entire human genome than ever before. In addition to disease-specific genetic mutations and chromosomal aberrations, epigenetic alterations in individuals can also be analyzed using genomics. Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) caused by genetic and/or environmental factors. More than a thousand genes associated with ASD have been identified which are known to be involved in brain development. However, it is difficult to decode the roles of ASD-associated genes without
in vitro
and
in vivo
validations, particularly in the process of brain development. In this review, we discuss genomic strategies for understanding the pathological mechanisms underlying ASD. For this purpose, we discuss ASD-associated genes and their functions, as well as analytical strategies and their strengths and weaknesses in cellular and animal models from a basic research perspective.