Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis

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Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis

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Title: Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis
Author: Kong, Sek Won; Sahin, Mustafa; Collins, Christin D; Wertz, Mary H; Campbell, Malcolm G; Leech, Jarrett D; Krueger, Dilja; Bear, Mark F; Kunkel, Louis M; Kohane, Isaac S

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Citation: Kong, Sek Won, Mustafa Sahin, Christin D Collins, Mary H Wertz, Malcolm G Campbell, Jarrett D Leech, Dilja Krueger, Mark F Bear, Louis M Kunkel, and Isaac S Kohane. 2014. “Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis.” Molecular Autism 5 (1): 16. doi:10.1186/2040-2392-5-16. http://dx.doi.org/10.1186/2040-2392-5-16.
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Abstract: 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.
Published Version: doi:10.1186/2040-2392-5-16
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3940253/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:12064363
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