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Local Protein Translation and RNA Processing of Synaptic Proteins in Autism Spectrum Disorder.

TLDR
A review of recent studies about local translation and mRNA processing of synaptic proteins and how perturbations of these processes may be related to the pathophysiology of ASD can be found in this paper.
Abstract
Autism spectrum disorder (ASD) is a heritable neurodevelopmental condition associated with impairments in social interaction, communication and repetitive behaviors. While the underlying disease mechanisms remain to be fully elucidated, dysfunction of neuronal plasticity and local translation control have emerged as key points of interest. Translation of mRNAs for critical synaptic proteins are negatively regulated by Fragile X mental retardation protein (FMRP), which is lost in the most common single-gene disorder associated with ASD. Numerous studies have shown that mRNA transport, RNA metabolism, and translation of synaptic proteins are important for neuronal health, synaptic plasticity, and learning and memory. Accordingly, dysfunction of these mechanisms may contribute to the abnormal brain function observed in individuals with autism spectrum disorder (ASD). In this review, we summarize recent studies about local translation and mRNA processing of synaptic proteins and discuss how perturbations of these processes may be related to the pathophysiology of ASD.

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SHANK2 Mutations Result in Dysregulation of the ERK1/2 Pathway in Human Induced Pluripotent Stem Cells-Derived Neurons and Shank2(−/−) Mice

TL;DR: In this paper, a human induced pluripotent stem cells (hiPSC) derived from a patient carrying a heterozygous deletion of SHANK2 and from the unaffected parents were generated from the patient and derived neurons.
Journal ArticleDOI

Postsynaptic autism spectrum disorder genes and synaptic dysfunction

TL;DR: A review of ASD-associated genes can be found in this article , where the authors provide an overview of the synaptic dysfunction of neuronal circuits and the ensuing behavioral alterations caused by mutations in autism spectrum disorder (ASD)-linked genes directly or indirectly affecting the postsynaptic neuronal compartment.
Journal ArticleDOI

Postsynaptic autism spectrum disorder genes and synaptic dysfunction.

TL;DR: In this paper, the authors provide an overview of the synaptic dysfunction of neuronal circuits and the ensuing behavioral alterations caused by mutations in autism spectrum disorder (ASD)-linked genes directly or indirectly affecting the postsynaptic neuronal compartment.
Journal ArticleDOI

Synaptic Alterations in a Transgenic Model of Tuberous Sclerosis Complex: Relevance to Autism Spectrum Disorders

TL;DR: In this paper, the authors analyzed synaptic pathology in a transgenic model of TSC: two-month-old male B6;129S4-Tsc2tm1Djk/J mice with Tsc2 haploinsufficiency.
Journal ArticleDOI

Protein interaction studies in human induced neurons indicate convergent biology underlying autism spectrum disorders

TL;DR: In this article , the authors built a protein-protein interaction network for 13 ASD-associated genes in human excitatory neurons derived from induced pluripotent stem cells (iPSCs), which contains newly reported interactions and is enriched for genetic and transcriptional perturbations observed in individuals with ASD.
References
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Journal ArticleDOI

N6-methyladenosine in nuclear RNA is a major substrate of the obesity-associated FTO.

TL;DR: FTO exhibits efficient oxidative demethylation activity of abundant N6-methyladenosine (m6A) residues in RNA in vitro, and it is shown that FTO partially colocalizes with nuclear speckles, supporting m6A in nuclear RNA as a physiological substrate of FTO.
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The biogenesis, biology and characterization of circular RNAs.

TL;DR: Advances in high-throughput RNA sequencing and circRNA-specific computational tools have driven the development of state-of-the-art approaches for their identification, and novel approaches to functional characterization are emerging.
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Dynamic RNA Modifications in Gene Expression Regulation

TL;DR: Roles for mRNA modification in nearly every aspect of the mRNA life cycle, as well as in various cellular, developmental, and disease processes are revealed.
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Neuroligins and Neurexins Link Synaptic Function to Cognitive Disease

TL;DR: This work has shown that alterations in genes encoding neurexins or neuroligins have recently been implicated in autism and other cognitive diseases, linking synaptic cell adhesion to cognition and its disorders.
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