Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

• Published in: Signal transduction and targeted therapy Vol. 7; no. 1; pp. 229 - 36
• Main Authors: Jiang, Chen-Chen, Lin, Li-Shan, Long, Sen, Ke, Xiao-Yan, Fukunaga, Kohji, Lu, Ying-Mei, Han, Feng
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 11.07.2022; Nature Publishing Group
• Subjects: 631/337; 631/378; Autism; Autism Spectrum Disorder - genetics; Autism Spectrum Disorder - metabolism; Autism Spectrum Disorder - therapy; Cancer Research; Cell Biology; Epigenesis, Genetic; Epigenetics; Humans; Internal Medicine; Medicine; Medicine & Public Health; Nervous system; Neurodevelopmental disorders; Oncology; Pathology; Review; Review Article; Risk factors; Signal transduction; Signal Transduction - genetics; Synaptic transmission
• ISSN: 2059-3635; 2095-9907; 2059-3635
• DOI: 10.1038/s41392-022-01081-0

Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known about its aetiology, risk factors, and disease progression. There are currently neither validated biomarkers for diagnostic screening nor specific medication for autism. Over the last two decades, there have been remarkable advances in genetics, with hundreds of genes identified and validated as being associated with a high risk for autism. The convergence of neuroscience methods is becoming more widely recognized for its significance in elucidating the pathological mechanisms of autism. Efforts have been devoted to exploring the behavioural functions, key pathological mechanisms and potential treatments of autism. Here, as we highlight in this review, emerging evidence shows that signal transduction molecular events are involved in pathological processes such as transcription, translation, synaptic transmission, epigenetics and immunoinflammatory responses. This involvement has important implications for the discovery of precise molecular targets for autism. Moreover, we review recent insights into the mechanisms and clinical implications of signal transduction in autism from molecular, cellular, neural circuit, and neurobehavioural aspects. Finally, the challenges and future perspectives are discussed with regard to novel strategies predicated on the biological features of autism.