Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis
Open accessAbstract
Background: Fragile X syndrome and tuberous sclerosis are genetic syndromes that both have a high rate of comorbidity with autism spectrum disorder (ASD). Several lines of evidence suggest that these two monogenic disorders may converge at a molecular level through the dysfunction of activity-dependent synaptic plasticity. Methods: To explore the characteristics of transcriptomic changes in these monogenic disorders, we profiled genome-wide gene expression levels in cerebellum and blood from murine models of fragile X syndrome and tuberous sclerosis. Results: Differentially expressed genes and enriched pathways were distinct for the two murine models examined, with the exception of immune response-related pathways. In the cerebellum of the Fmr1 knockout (Fmr1- KO) model, the neuroactive ligand receptor interaction pathway and gene sets associated with synaptic plasticity such as long-term potentiation, gap junction, and axon guidance were the most significantly perturbed pathways. The phosphatidylinositol signaling pathway was significantly dysregulated in both cerebellum and blood of Fmr1-KO mice. In Tsc2 heterozygous (+/−) mice, immune system-related pathways, genes encoding ribosomal proteins, and glycolipid metabolism pathways were significantly changed in both tissues. Conclusions: Our data suggest that distinct molecular pathways may be involved in ASD with known but different genetic causes and that blood gene expression profiles of Fmr1- KO and Tsc2+/− mice mirror some, but not all, of the perturbed molecular pathways in the brain.
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TSC arises from heterozygous mutations in TSC1 or TSC2 and is frequently associated with long-term and working memory deficits, intellectual disability, ASD, and epilepsy.
“Frequently associated with deficits in long-term and working memory, along with intellectual disability, ASD, and epilepsy, TSC arises from heterozygous mutations in the TSC1 or TSC2 genes (Ehninger et al., 2009; Ehninger et al., 2008; Kong et al., 2014; Tsai et al., 2012).”
From Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops (2016) · cites this paper as Kong et al., 2014
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- Authors
- Kong, S. W., Sahin, M., Collins, C. D., Wertz, M. H., Campbell, M. G., Leech, J. D., Krueger, D., Bear, M. F., Kunkel, L. M., & Kohane, I. S.
- Affiliations
- Boston Children's Hospital (US)
- Harvard University (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Kohane, Isaac S
- Venue
- Molecular Autism
- Published
- 2014-02-24
- Volume
- 5
- Issue
- 1
- Pages
- 16-16
- ISSN
- 2040-2392 (ISSN-L)
- PMC
- PMC3940253
- OpenAlex
- W2155030181
- Cited by
- 19
- References
- 55
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2022: 1 · 2021: 2 · 2019: 2 · 2018: 1 · 2017: 3 · 2016: 3 · 2015: 3
- FWCI
- 1.97
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Molecular Autism (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by-nc)
- Funders
- Autism Speaks
- Charles H. Hood Foundation
- National Institutes of Health (5p50mh094267-05, P50MH094267)
- Manton Center for Orphan Disease Research, Boston Children's Hospital
- National Institute of Mental Health (P50-MH094267, R01MH085143)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD018655)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
- Keywords
- fragile X syndrome, tuberous sclerosis complex, autism spectrum disorder, gene expression dysregulation, Fmr1 knockout mice, cerebellum, blood transcriptome, synaptic plasticity, long-term potentiation, gap junctions, axon guidance, immune response, ribosomal proteins, glycolipid metabolism, comorbidities
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