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A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders

Bagni, Claudia
Zukin, R. Suzanne
Published in Neuron. 2019, vol. 101, no. 6, p. 1070-1088
Abstract Altered synaptic structure and function is a major hallmark of Fragile X Syndrome (FXS), Autism Spectrum Disorders (ASDs) and other intellectual disabilities (IDs), which are therefore classified as synaptopathies. FXS and ASDs, while clinically and genetically distinct, share significant comorbidity, suggesting that there may be a common molecular and/or cellular basis, presumably at the synapse. In this article we review brain architecture and synaptic pathways that are dysregulated in FXS and ASDs, including spine architecture, signaling in synaptic plasticity, local protein synthesis, (m)RNA modifications and degradation. mRNA repression is a powerful mechanism for the regulation of synaptic structure and efficacy. We infer that there is no single pathway that explains most of the etiology and discuss new findings and the implications for future work directed at improving our understanding of the pathogenesis of FXS and related ASDs and the design of therapeutic strategies to ameliorate these disorders.
Keywords FMRPFXSTSCASDsMTORERKMNKSynaptopathiesMGluRsMRNA metabolism
PMID: 30897358
Full text
Research group NCCR Synapsy
Swiss National Science Foundation: 51NF40-158776
Swiss National Science Foundation: 310030_182651
(ISO format)
BAGNI, Claudia, ZUKIN, R. Suzanne. A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders. In: Neuron, 2019, vol. 101, n° 6, p. 1070-1088. doi: 10.1016/j.neuron.2019.02.041

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Deposited on : 2020-05-26

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