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Cited by 326Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology ResearchAutism Spectrum Disorder Research

A synaptic perspective of fragile X syndrome and autism spectrum Disorders.

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Bagni, Claudia, Zukin, R. Suzanne·2019·Neuron
DOI 10.1016/j.neuron.2019.02.041PMC PMC9628679
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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.

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  • FMRP expression in astrocytes appears essential for normal synapse formation and function.

    “FMRP expression in astrocytes appears essential for normal synapse formation and function (Cheng et al., 2012; Bagni and Zukin, 2019).”

    From Astrocytes in fragile X syndrome (2024) · cites this paper as Bagni and Zukin, 2019

    The “FMRP at Synapses” section describes FMRP’s regulation of synaptic proteins and function, but its discussion focuses on neurons. Our copy does not establish that FMRP expression specifically in astrocytes is essential for normal synapse formation and function (searched: astrocytes, astrocytic, glia). (LLM, conf=0.82)

    Experimental — accuracy not yet measured

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Authors
Bagni, C., & Zukin, R. S.
Affiliations
  • University of Rome Tor Vergata (IT)
  • Albert Einstein College of Medicine (US)
Corresponding author
  • Bagni, Claudia
  • Zukin, R. Suzanne
ORCID
Venue
Neuron
Publisher
Elsevier BV
Published
2019-03
Volume
101
Issue
6
Pages
1070-1088
ISSN
0896-6273 (ISSN-L)
DOI
10.1016/j.neuron.2019.02.041
PMC
PMC9628679
OpenAlex
W2923019381
Cited by
326
References
38
Citations by year
2026: 27 · 2025: 40 · 2024: 46 · 2023: 53 · 2022: 56 · 2021: 50 · 2020: 45 · 2019: 8
FWCI
5.27
Type
journal article
Language
en
Open access
Licence
Locations
  • Neuron (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • SERVAL (Université de Lausanne) (acceptedVersion, cc-by-nc-nd)
  • Archive ouverte UNIGE (University of Geneva) (acceptedVersion, other-oa)
  • IRIS (submittedVersion, cc-by-nc-nd)
  • Lirias (KU Leuven) (submittedVersion, other-oa)
  • Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion)
  • Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by-nc-nd)
Funders
Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Keywords
fragile X syndrome, autism spectrum disorder, synaptopathy, synaptic dysfunction, intellectual disability, synaptic plasticity, local protein synthesis, mRNA modification, mRNA degradation, mRNA repression, comorbidities, pathogenesis, treatment options
MeSH terms
Autism Spectrum Disorder, Animals, Brain, Disease Models, Animal, Fragile X Syndrome, Humans, Synaptic Transmission, Neuronal Plasticity, RNA Processing, Post-Transcriptional, RNA, Messenger, Synapses, Signal Transduction, Dendritic Spines, Mice

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