Molecular basis of autism spectrum disorders

Abstract

Autism is a prevalent neurological disorder that affects the development of children worldwide. With the advent of genome wide association studies and whole exome sequencing methods, associated genes and molecular pathways that lead to the development of autism spectrum disorder (ASD) have garnered recent attention. However, the etiology of ASD is still rudimentary and poorly understood. Thus, understanding the specific molecular pathways that contribute to autism aids in its clinical diagnosis, management, and treatment. Currently, the genes involved are expansive and affect many molecular pathways. These include transcriptional and translational regulation, proteostasis, cytoskeletal organization, synaptic development and plasticity, and autophagy. Additionally, there are a multitude of factors involved in ASD pathogenesis, including neuroinflammation, signaling defects, and vitamin deficiencies. This review aims to provide a comprehensive understanding regarding the genes and underlying molecular mechanisms that contribute to ASD and the translational therapies for the management of ASD.