Signaling pathways that are influenced by SHANK3 mutation and related treatment for autism

Abstract

Autism (classical autism) is a neurodevelopmental disorder which is characterized by language delay, social impairment, repeated behaviors and hypophrenia in clinic. Recently, researches on autism have increased for the increasing prevalence of autism around the world. Genetic factors and environmental factors are considered as two main etiologies of autism. Hundreds of genes that are related to dendrite growth, synapse formation and neuronal function are identified as autism-associated genes. It is hard to totally understand the pathogenesis of autism due to the heterogeneous etiology of autism. Shank3 gene encodes an important scaffold protein which is involved in the formation of PSD. Mutations of Shank3 gene are strongly related to autism. Especially, the 22q13.3-deletion that results in the haploinsufficiency of SHANK3 leads to Phelan-McDermid syndrome. In order to find out how Shank3 mutations cause autism in molecular level, this review summarizes the relationship between SHANK3 and signaling pathways that are influenced by Shank3 mutations with current literature. In addition, possible intervening strategies towards SHANK3-related autism are collected for their potential in treating autism.