Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome
Open accessAbstract
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism. The protein (FMRP) encoded by the fragile X mental retardation gene (FMR1), is an RNA‐binding protein linked to translational control. Recently, in the Fmr1 knockout mouse model of FXS, dysregulated translation initiation signaling was observed. To investigate whether an altered signaling was also a feature of subjects with FXS compared to typical developing controls, we isolated total RNA and translational control proteins from lymphocytes of subjects from both groups (38 FXS and 14 TD). Although we did not observe any difference in the expression level of messenger RNAs (mRNAs) for translational initiation control proteins isolated from participant with FXS, we found increased phosphorylation of the mammalian target of rapamycin (mTOR) substrate, p70 ribosomal subunit 6 kinase1 (S6K1) and of the mTOR regulator, the serine/threonine protein kinase (Akt), in their protein lysates. In addition, we observed increased phosphorylation of the cap binding protein eukaryotic initiation factor 4E (eIF4E) suggesting that protein synthesis is upregulated in FXS. Similar to the findings in lymphocytes, we observed increased phosphorylation of S6K1 in brain tissue from patients with FXS (n = 4) compared to normal age‐matched controls (n = 4). Finally, we detected increased expression of the cytoplasmic FMR1‐interacting protein 2 (CYFIP2), a known FMRP interactor. This data verify and extend previous findings using lymphocytes for studies of neuropsychiatric disorders and provide evidence that misregulation of mTOR signaling observed in the FXS mouse model also occurs in human FXS and may provide useful biomarkers for designing targeted treatments in FXS.
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Molecular signaling pathways that orchestrate protein synthesis, spine shape, and synaptic plasticity, such as mTOR and ERK, are impaired in fragile X syndrome, possibly because some FMRP target mRNAs encode members of second messenger cascades converging on ERK.
“The molecular signaling pathways orchestrating protein synthesis, spine shape, and synaptic plasticity, such as mTOR and ERK (Figure 2), are also impaired in FXS (72,(87)(88)(89), possibly because some FMRP target mRNAs encode members of second messenger cascades converging on ERK (88,89).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [87]
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Self-citation
- Authors
- Hoeffer, C. A., Sanchez, E., Hagerman, R. J., Mu, Y., Nguyen, D. V., Wong, H., Whelan, A. M., Zukin, R. S., Klann, E., & Tassone, F.
- Affiliations
- New York University (US)
- University of California, Davis (US)
- University of California Davis Medical Center (US)
- Albert Einstein College of Medicine (US)
- Corresponding author
- Tassone, F.
- Venue
- Genes, Brain and Behavior
- Publisher
- Wiley
- Published
- 2012-02-15
- Volume
- 11
- Issue
- 3
- Pages
- 332-341
- ISSN
- 1601-183X (ISSN-L)
- 1601-1848
- PMC
- PMC3319643
- OpenAlex
- W2151816252
- Cited by
- 198
- References
- 69
- Citations by year
- 2026: 9 · 2025: 4 · 2024: 12 · 2023: 11 · 2022: 14 · 2021: 16 · 2020: 14 · 2019: 13 · 2018: 15 · 2017: 14 · 2016: 17 · 2015: 14 · 2014: 17 · 2013: 21 · 2012: 7
- FWCI
- 11.34
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Genes Brain & Behavior (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- FRAXA Research Foundation
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke (NS047834)
- National Center for Research Resources (RR-024146, HD02274, HD036071, UL1RR024146)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD036071, HD 02274, P30HD002274, R01HD036071)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA and protein synthesis mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › PI3K/AKT/mTOR signaling in cancer
- Keywords
- fragile X syndrome, mTOR signaling, CYFIP2, FMRP, S6K1 phosphorylation, Akt phosphorylation, eIF4E phosphorylation, translational regulation, lymphocytes, brain tissue, intellectual disability, autism spectrum disorder, biomarkers
- MeSH terms
- Adolescent, Adult, Aged, Child, Child, Preschool, Female, Fragile X Syndrome, Gene Expression Regulation, Humans, Male, Middle Aged, Signal Transduction, Up-Regulation, Adaptor Proteins, Signal Transducing, Fragile X Messenger Ribonucleoprotein 1, Young Adult, TOR Serine-Threonine Kinases, Primary Cell Culture
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