Neural precursor cells rescue symptoms of Rett syndrome by activation of the Interferon γ pathway
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Abstract
The beneficial effects of Neural Precursor Cell (NPC) transplantation in several neurological disorders are well established and they are generally mediated by the secretion of immunomodulatory and neurotrophic molecules. We therefore investigated whether Rett syndrome (RTT), that represents the first cause of severe intellectual disability in girls, might benefit from NPC-based therapy. Using in vitro co-cultures, we demonstrate that, by sensing the pathological context, NPC-secreted factors induce the recovery of morphological and synaptic defects typical of Mecp2 deficient neurons. In vivo, we prove that intracerebral transplantation of NPCs in RTT mice significantly ameliorates neurological functions. To uncover the molecular mechanisms underpinning the mediated benefic effects, we analyzed the transcriptional profile of the cerebellum of transplanted animals, disclosing the possible involvement of the Interferon γ (IFNγ) pathway. Accordingly, we report the capacity of IFNγ to rescue synaptic defects, as well as motor and cognitive alterations in Mecp2 deficient models, thereby suggesting this molecular pathway as a potential therapeutic target for RTT.
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Cholesterol treatment recovers pre- and post-synaptic defects in Mecp2 HET neurons.
“By measuring the density of synaptic puncta, we proved that cholesterol treatment recovers pre-and post-synaptic defects, typically shown by HET neurons (Frasca et al., 2024) (Figure 5A-D).”
From Impaired astrocyte-to-neuron cholesterol trafficking drives synaptic dysfunction in Rett syndrome (2026) · cites this paper as Frasca et al., 2024
In the Results section on NPC-secreted factors (Fig. 1J–K; page unavailable), Frasca et al. report reduced presynaptic puncta in Mecp2 Het neurons. The cited paper documents postsynaptic puncta defects in Mecp2 KO neurons, but does not establish the corresponding puncta defect in Het neurons. The cholesterol-treatment result is presented as the citing authors’ own finding, not as a finding attributed to Frasca et al. (LLM, conf=0.84)
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Albizzati, E., Florio, E., Miramondi, F., Sormonta, I., Landsberger, N., & Frasca, A. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.823060 · Cited by 12 · see citing works
Self-citationPerego, S., Alari, V., Pietra, G., Lamperti, A., Vimercati, A., Camporeale, N., Garzo, M., Cogliati, F., Milani, D., Vignoli, A., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232214491 · Cited by 11 · see citing works
Carli, S., Chaabane, L., Rocco, G. D., Albizzati, E., Sormonta, I., Calligaro, S., Bonizzi, P., Frasca, A., & Landsberger, N. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106083 · Cited by 9 · see citing works
Self-citationRett syndrome: from the involved gene(s) to treatment
Frasca, A., Kilstrup‐Nielsen, C., & Landsberger, N. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-85654-6.00002-2 · Cited by 6 · see citing works
Self-citationLi, H., Hu, M., Huang, Z., Wang, Y., Xu, Y., Deng, J., Zhu, M., Feng, W., & Xu, X. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2022.1056447 · Cited by 6 · see citing works
Wp, L., Wang, J., Qu, S., Du, K., Yang, H., Yx, Y., Zy, W., & Luan, Z. (2013) · PubMed · Cited by 2 · see citing works
Mecp2 knock-out astrocytes affect synaptogenesis by IL-6 dependent mechanismsPreprint
Albizzati, E., Florio, E. M., Breccia, M., Cabasino, C., Pozzi, D., Boda, E., Battaglia, C., Palma, C. D., Quattro, C. D., Landsberger, N., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.02.08.527630 · Cited by 1 · see citing works
Self-citation
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Gonçalez, J. L., Shen, J., & Li, W. (2024) · Cells · doi:10.3390/cells13242077 · Cited by 19 · see citing works
Choi, G. T., Lee, S., Yoo, S., & Tae, J. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26178277 · Cited by 10 · see citing works
Fazzari, M., Lunghi, G., Carsana, E. V., Valsecchi, M., Spiombi, E., Breccia, M., Casati, S. R., Pedretti, S., Mitro, N., Mauri, L., et al. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252111555 · Cited by 5 · see citing works
Self-citationFadzli, N. F. M., Bakri, S. S. M. A., & Nordin, N. (2025) · Current Opinion in Physiology · doi:10.1016/j.cophys.2025.100865 · Cited by 4 · see citing works
Impaired astrocyte-to-neuron cholesterol trafficking drives synaptic dysfunction in Rett syndrome
Postogna, F. M., Giancroce, N., Cabasino, C., Biella, F., Roggero, O. M., Breccia, M., Morelli, L., Colombo, D., Arcari, A., Lunghi, G., et al. (2026) · doi:10.64898/2026.07.29.741426 · Cited by 1 · see citing works
Self-citationSpatially resolved mapping of histones reveals selective neuronal response in Rett syndrome
Schäfer, F., Rocco, G. D., Völker-Albert, M. C., Forné, I., Landsberger, N., Imhof, A., & Lahiri, S. (2026) · FEBS Journal · doi:10.1111/febs.70534 · Cited by 1 · see citing works
Self-citationRett syndrome: interferon-γ to the rescue?
Meehan, R. R., & Pennings, S. (2024) · EMBO Molecular Medicine · doi:10.1038/s44321-024-00154-7
A novel approach to metabolic profiling in case models of MECP2-related disorders
Coleman, J. A. C., Moffitt, B. A., Bridges, W. C., Jones, K. L., May, M. M., Skinner, C. D., Friez, M. J., Skinner, S. A., Schwartz, C. E., & Boccuto, L. (2025) · Metabolic Brain Disease · doi:10.1007/s11011-025-01546-5
Kannan, A. L., Patnaik, A., Theurer, A., Demuth, L., Körte, M., Landsberger, N., & Zagrebelsky, M. (2025) · Experimental Neurology · doi:10.1016/j.expneurol.2025.115457
Self-citationEarly AMPA receptor potentiation modifies synaptic maturation and disease progression in Rett modelsPreprint
Landsberger, N., Rocco, G. D., de Donato, A., Indrigo, M. T., Varotto, V., Geusa, M., Taverna, S., Cifola, I., Pinatel, E., & Frasca, A. (2026) · Research Square · doi:10.21203/rs.3.rs-10618030/v1
Self-citation
- Authors
- Frasca, A., Miramondi, F., Butti, E., Indrigo, M., Balbontin Arenas, M., Postogna, F. M., Piffer, A., Bedogni, F., Pizzamiglio, L., Cambria, C., Borello, U., Antonucci, F., Martino, G., & Landsberger, N.
- Affiliations
- University of Milan (IT)
- IRCCS Ospedale San Raffaele (IT)
- Centre National de la Recherche Scientifique (FR)
- University of Pisa (IT)
- Corresponding author
- Landsberger, Nicoletta
- ORCID
- Venue
- EMBO Molecular Medicine
- Published
- 2024-09-20
- Volume
- 16
- Issue
- 12
- Pages
- 3218-3246
- ISSN
- 1757-4676 (ISSN-L)
- 1757-4684
- PMC
- PMC11628625
- OpenAlex
- W4402713408
- Cited by
- 9
- References
- 91
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 3
- FWCI
- 2.39
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- EMBO Molecular Medicine (publishedVersion, cc-by)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, cc-by)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion, cc-by)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
- Funders
- Fondation Jérôme Lejeune (JLF#1951)
- Banca d'Italia
- Ministero dell'Università e della Ricerca (2022TWKYL5)
- 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 › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
- Keywords
- Rett syndrome, interferon-gamma pathway, MeCP2 deficiency, synaptic defects, cerebellum, motor and cognitive deficits, neuroprotection, cell therapy, intellectual disability
- MeSH terms
- Animals, Cells, Cultured, Disease Models, Animal, Female, Humans, Interferon-gamma, Neurons, Signal Transduction, Rett Syndrome, Coculture Techniques, Mice, Methyl-CpG-Binding Protein 2, Neural Stem Cells
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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