Postsynaptic autism spectrum disorder genes and synaptic dysfunction

Paola Bonsi, Antonella De Jaco, Laurent Fasano, Paolo Gubellini

Research output: Contribution to journalArticlepeer-review

Abstract

This review provides 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. There are plenty of ASD risk genes, that may be broadly grouped into those involved in gene expression regulation (epigenetic regulation and transcription) and genes regulating synaptic activity (neural communication and neurotransmission). Notably, the effects mediated by ASD-associated genes can vary extensively depending on the developmental time and/or subcellular site of expression. Therefore, in order to gain a better understanding of the mechanisms of disruptions in postsynaptic function, an effort to better model ASD in experimental animals is required to improve standardization and increase reproducibility within and among studies. Such an effort holds promise to provide deeper insight into the development of these disorders and to improve the translational value of preclinical studies.

Original languageEnglish
Article number105564
JournalNeurobiology of Disease
Volume162
DOIs
Publication statusPublished - Jan 2022

Keywords

  • Animal models of ASD
  • ASD gene expression regulation
  • Mitochondrial dysfunction

ASJC Scopus subject areas

  • Neurology

Fingerprint

Dive into the research topics of 'Postsynaptic autism spectrum disorder genes and synaptic dysfunction'. Together they form a unique fingerprint.

Cite this