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The Pathophysiology of Fragile X (and What It Teaches Us about Synapses)
Open accessAbstract
Fragile X is the most common known inherited cause of intellectual disability and autism, and it typically results from transcriptional silencing of FMR1 and loss of the encoded protein, FMRP (fragile X mental retardation protein). FMRP is an mRNA-binding protein that functions at many synapses to inhibit local translation stimulated by metabotropic glutamate receptors (mGluRs) 1 and 5. Recent studies on the biology of FMRP and the signaling pathways downstream of mGluR1/5 have yielded deeper insight into how synaptic protein synthesis and plasticity are regulated by experience. This new knowledge has also suggested ways that altered signaling and synaptic function can be corrected in fragile X, and human clinical trials based on this information are under way.
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In the citing paper
“FMRP has recently been reported to modulate the rate of translational elongation of mRNAs that encode synaptic proteins33, suggesting that the decrease in FMRP expression that occurs in Fragile X syndrome may result in the dysregulation of synaptic protein expression owing to an impairment in translational control23.”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [23]
In the citing paper
“Fragile X syndrome results from a trinucleotide expansion (CGG) in FMR1, which encodes fragile X mental retardation protein (FMRP).”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [23]
In the citing paper
“The CGG expansion occurs within the 5′ untranslated region of the FMRP mRNA, resulting in decreased translation of the FMRP mRNA and a decrease in the amount of FMRP expressed in neurons.”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [23]
In the citing paper
“In addition to these rare mutations, several widely studied syndromic disorders, such as Fragile X, with penetrant autism spectrum features have provided useful insight into the pathophysiology of ASD.”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [23]
In the citing paper
“For example, Fragile X syndrome — characterized by macroorchidism, connective-tissue disease, motor abnormalities, language deficits and impaired social interactions — is the leading cause of inherited intellectual disability and ASD23.”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [23]
In the citing paper
“This protein negatively regulates the translation of specific mRNAs at the synapse23,54.”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [23]
In the citing paper
“Several genes that are mutated in ASD — FMR1, TSC1, TSC2 and PTEN — have key roles in protein synthesis-dependent plasticity of synapses (Fig. 2)13,23.”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [23]
In the citing paper
“These findings are the basis of human clinical trials that aim to test the efficacy of mGluR5 antagonists for the treating Fragile X syndrome23,56–58.”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [23]
In the citing paper
“This suggests that these ASD candidate genes and FMRP may function in overlapping pathways.”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [23]
In the citing paper
“Many other FMRP targets have been shown to be involved in synaptic plasticity, and there is significant overlap between FMRP targets and ASD candidate genes, including NLGN3, NRXN1, SHANK3, PTEN, TSC1 and NF123,33.”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [23]
In the citing paper
“As the Ras–MAPK signalling pathway is crucial for activity-regulated protein synthesis, activity-dependent gene transcription and mGluR dependent synaptic plasticity23,25,95”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [23]
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Citations
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Metadata
- Authors
- Bhakar, A. L., Dölen, G., & Bear, M. F.
- Affiliations
- Howard Hughes Medical Institute (US)
- Stanford Medicine (US)
- Venue
- Annual Review of Neuroscience
- Publisher
- Annual Reviews
- Published
- 2012-07-21
- Volume
- 35
- Issue
- 1
- Pages
- 417-443
- ISSN
- 0147-006X (ISSN-L)
- 1545-4126
- PMC
- PMC4327822
- OpenAlex
- W2146760872
- Cited by
- 370
- References
- 207
- Citations by year
- 2026: 4 · 2025: 13 · 2024: 13 · 2023: 17 · 2022: 14 · 2021: 24 · 2020: 16 · 2019: 21 · 2018: 31 · 2017: 29 · 2016: 37 · 2015: 43 · 2014: 49 · 2013: 42 · 2012: 17
- FWCI
- 5.90
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Annual Review of Neuroscience (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by-nc-sa)
- PMC
- Funders
- Howard Hughes Medical Institute
- National Institute of Mental Health (F30MH067431)
- 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 › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA and protein synthesis mechanisms
- Keywords
- fragile X syndrome, FMRP, intellectual disability, autism spectrum disorder, metabotropic glutamate receptors, local protein synthesis, synaptic plasticity, mRNA-binding proteins
- MeSH terms
- Animals, Brain, Disease Models, Animal, Fragile X Syndrome, Gene Expression Regulation, Humans, Models, Biological, Nerve Tissue Proteins, Neuronal Plasticity, RNA, Synapses, Protein Biosynthesis, Signal Transduction, Receptors, Metabotropic Glutamate, Fragile X Mental Retardation Protein, Fragile X Messenger Ribonucleoprotein 1
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