Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice
Open accessAbstract
Rett Syndrome (RTT) is a severe form of X-linked mental retardation caused by mutations in the gene coding for methyl CpG-binding protein 2 (MECP2). Mice deficient in MeCP2 have a range of physiological and neurological abnormalities that mimic the human syndrome. Here we show that systemic treatment of MeCP2 mutant mice with an active peptide fragment of Insulin-like Growth Factor 1 (IGF-1) extends the life span of the mice, improves locomotor function, ameliorates breathing patterns, and reduces irregularity in heart rate. In addition, treatment with IGF-1 peptide increases brain weight of the mutant mice. Multiple measurements support the hypothesis that RTT results from a deficit in synaptic maturation in the brain: MeCP2 mutant mice have sparse dendritic spines and reduced PSD-95 in motor cortex pyramidal neurons, reduced synaptic amplitude in the same neurons, and protracted cortical plasticity in vivo. Treatment with IGF-1 peptide partially restores spine density and synaptic amplitude, increases PSD-95, and stabilizes cortical plasticity to wild-type levels. Our results thus strongly suggest IGF-1 as a candidate for pharmacological treatment of RTT and potentially of other CNS disorders caused by delayed synapse maturation.
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IGF-1 partially rescued locomotor activity, respiratory function and heart rate in Mecp2 mice.
“Additionally, insulin-like growth factor (IGF-1) partially rescued locomotor activity, respiratory function and heart rate in Mecp2 mice [209,210].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [210]
Cell-specific, germ-line, and mosaic deletions of MeCP2 have different impacts on the developmental trajectory of cortical circuit assembly and function.
“Taken together, our results and previous studies (60,62) suggest that cell specific, germ-line, and mosaic deletions of MeCP2 have different impacts on the developmental trajectory of cortical circuit assembly and function;”
From MeCP2 regulates the timing of critical period plasticity that shapes functional connectivity in primary visual cortex (2015) · cites this paper as [62]
A previous study reported a deficit in glutamatergic synapse maturation and more protracted OD plasticity in V1 in adult MeCP2 heterozygous females.
“A previous study reported a deficit in glutamatergic synapse maturation and more protracted OD plasticity in V1 in adult MeCP2 heterozygous females (62).”
From MeCP2 regulates the timing of critical period plasticity that shapes functional connectivity in primary visual cortex (2015) · cites this paper as [62]
In cases of Mecp2 and Shank3, neurons could be partially rescued by activating the PI3K/AKT pathway through Pten inhibition or IGF1 treatment.
“in cases of Mecp2 and Shank3, neurons could be partially rescued by activating PI3K/AKT pathway through Pten inhibition or IGF1 treatment”
From The ASD Living Biology: from cell proliferation to clinical phenotype (2019) · cites this paper as [110]
Mutations in Mecp2 and Shank3 suppress the PI3K/AKT pathway, leading to delayed and sparse spine development and reduced synaptic amplitude.
“mutations in Mecp2 and Shank3 are reported to suppress the pathway, leading to delayed and sparse spine development and reduced synaptic amplitude [110, 111].”
From The ASD Living Biology: from cell proliferation to clinical phenotype (2019) · cites this paper as [110]
IGF1 is considered an emerging treatment for ASD in animal and cellular models.
“Insulin like growth factor 1 (IGF1) is considered an emerging treatment for ASD in animal and cellular models in ASD [133–136].”
From An Update on Psychopharmacological Treatment of Autism Spectrum Disorder (2022) · cites this paper as [133]
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Berry-Kravis, E., Horrigan, J. P., Tartaglia, N., Hagerman, R., Kolevzon, A., Erickson, C. A., Hatti, S., Snape, M., Yaroshinsky, A., Stoms, G., et al. (2020) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2020.04.019 · Cited by 102 · see citing works
MeCP2 modulates gene expression pathways in astrocytes
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NNZ-2566, a novel analog of (1–3) IGF-1, as a potential therapeutic agent for fragile X syndrome
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Reduction of aberrant NF-κB signalling ameliorates Rett syndrome phenotypes in Mecp2-null mice
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Reversibility of functional deficits in experimental models of Rett syndrome
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Self-citationKaufmann, W. E., Sprouse, J., Rebowe, N., Hanania, T., Klamer, D., & Missling, C. U. (2019) · Pharmacology Biochemistry and Behavior · doi:10.1016/j.pbb.2019.172796 · Cited by 54 · see citing works
Role of MeCP2, DNA methylation, and HDACs in regulating synapse function
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Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain
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Genetics of Autism Spectrum Disorders
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Neural precursor cells rescue symptoms of Rett syndrome by activation of the Interferon γ pathway
Frasca, A., Miramondi, F., Butti, E., Indrigo, M., Balbontin Arenas, M., Postogna, F. M., Piffer, A., Bedogni, F., Pizzamiglio, L., Cambria, C., et al. (2024) · EMBO Molecular Medicine · doi:10.1038/s44321-024-00144-9 · Cited by 9 · see citing works
- Authors
- Tropea, D., Giacometti, E., Wilson, N. R., Beard, C., McCurry, C., Fu, D. D., Flannery, R., Jaenisch, R., & Sur, M.
- Affiliations
- Massachusetts Institute of Technology (US)
- Whitehead Institute for Biomedical Research (US)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2009-02-10
- Volume
- 106
- Issue
- 6
- Pages
- 2029-2034
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC2644158
- OpenAlex
- W2164502083
- Cited by
- 593
- References
- 49
- Citations by year
- 2026: 12 · 2025: 18 · 2024: 38 · 2023: 19 · 2022: 33 · 2021: 26 · 2020: 32 · 2019: 17 · 2018: 27 · 2017: 31 · 2016: 46 · 2015: 46 · 2014: 46 · 2013: 62 · 2012: 60
- FWCI
- 26.95
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- U.S. Public Health Service (F32-EYO17240)
- National Eye Institute (F32EY017500)
- National Cancer Institute (R01CA087869)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD045022)
- 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 › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- Rett syndrome, MeCP2, insulin-like growth factor I, synapse maturation, dendritic spines, PSD-95, cortical plasticity, locomotor function, heart rate irregularity, breathing abnormalities, lifespan extension, X-linked intellectual disability, pharmacotherapy
- MeSH terms
- Action Potentials, Animals, Brain, Disease Models, Animal, Heart Rate, Insulin-Like Growth Factor I, Mice, Mutant Strains, Motor Activity, Synaptic Transmission, Neurons, Organ Size, Rett Syndrome, Survival Rate, Treatment Outcome, Mice, Methyl-CpG-Binding Protein 2
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