The Function of Post Synaptic Density Proteins in Neuro-developmental Disorders

Background and Aim : Autism spectrum disorder (ASD) is a neuro-developmental disorder and is characterized by deficits in reciprocal social communication and stereotyped and repetitive behaviors. ASD is a common disorder with an estimated prevalence of 1/59. It is known that ASD is highly heterogeneous with various genetic factors contributing to its etiology. Different methods have investigated the genetic/molecular cause of the disorder and these investigations have implicated more than a hundred genes, but there is a fact that each gene or genomic alteration often accounts for less than 1% of the cases. Many of the genes associated with Autism Spectrum Disorder have duties in the development or functioning of neuronal circuits. For example, there are lots of repeatedly reported individuals with ASD who have a mutation in genes coding for synaptic cell adhesion molecules and scaffold proteins, such as neuroligins, neurexins, and SHANK proteins. These proteins are important because of the critical role of them in the formation and stabilization of synapses in the postsynaptic density (PSD). The PSD is a complex protein which localized at the postsynaptic plasma membrane of excitatory synapses. The PSD is essential for protein trafficking in neurons and synaptic plasticity.Methods : The aim of the present study is to focus on the function of some synaptic proteins involved in autism spectrum disorder.Results : The synapse has consequently emerged as a common target for the different genetic mutations that affect chromatin remodeling, synaptic translation, formation, and functioning. On the other hand, a large body of neurobiological studies indicate that synaptic dysfunctions occur in ASD: reduced neuronal length and shortened dendritic patterns are a few examples. Mutations in synaptic genes are responsible for the crucial part of the ASD phenotype.Conclusion : As a result, understanding the mechanisms that regulate synaptic proteins function should make known the causes of ASD and could allocate a way to moderate the severity of the symptoms.

Keywords:

Autism Spectrum Disorder (ASD) , Postsynaptic Density (PSD) , Synaptic Proteins Function