A metabolomic and systems biology perspective on the brain of the fragile X syndrome mouse model
Open accessAbstract
Fragile X syndrome (FXS) is the first cause of inherited intellectual disability, due to the silencing of the X-linked Fragile X Mental Retardation 1 gene encoding the RNA-binding protein FMRP. While extensive studies have focused on the cellular and molecular basis of FXS, neither human Fragile X patients nor the mouse model of FXS--the Fmr1-null mouse--have been profiled systematically at the metabolic and neurochemical level to provide a complementary perspective on the current, yet scattered, knowledge of FXS. Using proton high-resolution magic angle spinning nuclear magnetic resonance ((1)H HR-MAS NMR)-based metabolic profiling, we have identified a metabolic signature and biomarkers associated with FXS in various brain regions of Fmr1-deficient mice. Our study highlights for the first time that Fmr1 gene inactivation has profound, albeit coordinated consequences in brain metabolism leading to alterations in: (1) neurotransmitter levels, (2) osmoregulation, (3) energy metabolism, and (4) oxidative stress response. To functionally connect Fmr1-deficiency to its metabolic biomarkers, we derived a functional interaction network based on the existing knowledge (literature and databases) and show that the FXS metabolic response is initiated by distinct mRNA targets and proteins interacting with FMRP, and then relayed by numerous regulatory proteins. This novel "integrated metabolome and interactome mapping" (iMIM) approach advantageously unifies novel metabolic findings with previously unrelated knowledge and highlights the contribution of novel cellular pathways to the pathophysiology of FXS. These metabolomic and integrative systems biology strategies will contribute to the development of potential drug targets and novel therapeutic interventions, which will eventually benefit FXS patients.
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The protein and network of mRNA targets and interacting proteins contribute to several forms of synaptic plasticity involving learning and memory processes, notably induced by activation of type I mGluR.
“The protein and network of mRNA targets and interacting proteins contribute to several forms of synaptic plasticity involving learning and memory processes, notably induced by activation of type I metabotropic gluta-mate receptor (mGluR; Davidovic et al., 2011).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Davidovic et al., 2011
FMRP is essential to the shaping of dendritic spines.
“FMRP is essential to the shaping of dendritic spines (Davidovic et al., 2011).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Davidovic et al., 2011
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- Authors
- Davidovic, L., Navratil, V., Bonaccorso, C. M., Catania, M. V., Bardoni, B., & Dumas, M.-E.
- Affiliations
- Lyon 1 Université (FR)
- Oasi Maria SS (IT)
- Centre National de la Recherche Scientifique (FR)
- ORCID
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2011-09-07
- Volume
- 21
- Issue
- 12
- Pages
- 2190-2202
- ISSN
- 1088-9051 (ISSN-L)
- PMC
- PMC3227107
- OpenAlex
- W2161560128
- Cited by
- 118
- References
- 77
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 6 · 2023: 7 · 2022: 7 · 2021: 9 · 2020: 7 · 2019: 12 · 2018: 9 · 2017: 7 · 2016: 7 · 2015: 12 · 2014: 12 · 2013: 9 · 2012: 7
- Type
- posted content
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Genome Research (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- FRAXA Research Foundation
- E-Rare
- European Commission (239290)
- Agence Nationale de la Recherche (ANR-08-GENO-0030, ANR-07-JCJC-0042)
- Centre National de la Recherche Scientifique
- FP7 People: Marie-Curie Actions
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Metabolomics and Mass Spectrometry Studies
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- fragile X syndrome, FMRP, brain metabolism, metabolic biomarkers, neurotransmitter levels, osmoregulation, energy metabolism, oxidative stress, interactome mapping, intellectual disability, therapeutic target
- MeSH terms
- Animals, Brain, Brain Chemistry, Disease Models, Animal, Fragile X Syndrome, Humans, Biomarkers, Drug Delivery Systems, Mice, Knockout, Systems Biology, Mice, Fragile X Messenger Ribonucleoprotein 1, Metabolome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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