Genomic Strategies for Understanding the Pathophysiology of Autism Spectrum Disorder

Miyuki Doi; Mengwei Li; Noriyoshi Usui; Shoichi Shimada

doi:10.3389/fnmol.2022.930941

Genomic Strategies for Understanding the Pathophysiology of Autism Spectrum Disorder

Front Mol Neurosci. 2022 Jun 24:15:930941. doi: 10.3389/fnmol.2022.930941. eCollection 2022.

Authors

Miyuki Doi^{1

2}, Mengwei Li¹, Noriyoshi Usui^{1

2

3

4}, Shoichi Shimada^{1

2

3

4}

Affiliations

¹ Department of Neuroscience and Cell Biology, Graduate School of Medicine, Osaka University, Suita, Japan.
² Addiction Research Unit, Osaka Psychiatric Research Center, Osaka Psychiatric Medical Center, Osaka, Japan.
³ United Graduate School of Child Development, Osaka University, Suita, Japan.
⁴ Global Center for Medical Engineering and Informatics, Osaka University, Suita, Japan.

Abstract

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.

Keywords: animal model; autism spectrum disorder (ASD); behavior; cellular model; gene; genomics; morphology; mutation.

Publication types

Review