Cholesterol metabolism and Rett syndrome pathogenesis
Abstract
Rett syndrome is caused by mutations in the gene encoding the transcriptional regulator MECP2. A new study demonstrates that cholesterol homeostasis is disrupted in Mecp2 mutant mice and suggests new therapeutic options for this disease.
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Individuals with Rett syndrome and the related CDKL5 disorder have elevated lipid levels.
“Individuals with Rett syndrome and the related CDKL5 disorder have elevated lipid levels [42, 43].”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [42]
Cites
Cholesterol metabolism in neurons and astrocytes
Pfrieger, F. W., & Ungerer, N. (2011) · Progress in Lipid Research · doi:10.1016/j.plipres.2011.06.002 · Cited by 500 · see citing works
A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome
Buchovecky, C. M., Turley, S. D., Brown, H. M., Kyle, S. M., McDonald, J. G., Liu, B., Pieper, A. A., Huang, W., Katz, D. M., Russell, D. W., et al. (2013) · Nature Genetics · doi:10.1038/ng.2714 · Cited by 234 · see citing works
Osterweil, E. K., Chuang, S.-C., Chubykin, A. A., Sidorov, M., Bianchi, R., Wong, R. K. S., & Bear, M. F. (2013) · Neuron · doi:10.1016/j.neuron.2012.01.034 · Cited by 230 · see citing works
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Segatto, M., Trapani, L., Di Tunno, I., Sticozzi, C., Valacchi, G., Hayek, J., & Pallottini, V. (2014) · PLoS ONE · doi:10.1371/journal.pone.0104834 · Cited by 80 · see citing works
Statins: Neurobiological underpinnings and mechanisms in mood disorders
Walker, A. J., Kim, Y., Borissiouk, I., Rehder, R., Dodd, S., Morris, G., Nierenberg, A. A., Maes, M., Fernandes, B. S., Dean, O. M., et al. (2021) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2021.07.012 · Cited by 33 · see citing works
Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome
Zandl-Lang, M., Züllig, T., Trötzmüller, M., Naegelin, Y., Abela, L., Wilken, B., Scholl-Buergi, S., Karall, D., Kappos, L., Köfeler, H., et al. (2022) · Metabolites · doi:10.3390/metabo12040291 · Cited by 30 · see citing works
Tierney, E., Remaley, A. T., Thurm, A., Jager, L. R., Wassif, C. A., Kratz, L. E., Bailey-Wilson, J. E., Bukelis, I., Sarphare, G., Jung, E. S., et al. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01580-8 · Cited by 26 · see citing works
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Modulation of Brain Cholesterol Metabolism through CYP46A1 Overexpression for Rett Syndrome
Audouard, E., Khefif, N., Gillet-Legrand, B., Nobilleau, F., Bouazizi, O., Stanga, S., Despres, G., Alves, S., Lamazière, A., Cartier, N., et al. (2024) · Pharmaceutics · doi:10.3390/pharmaceutics16060756 · Cited by 7 · see citing works
- Authors
- Nagy, G., & Ackerman, S. L.
- Affiliations
- Howard Hughes Medical Institute (US)
- Corresponding author
- Ackerman, Susan L
- ORCID
- Ackerman, Susan L
- Venue
- Nature Genetics
- Published
- 2013-08-28
- Volume
- 45
- Issue
- 9
- Pages
- 965-967
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2056230102
- Cited by
- 19
- References
- 3
- Citations by year
- 2024: 4 · 2023: 1 · 2022: 1 · 2021: 4 · 2019: 1 · 2017: 2 · 2016: 2 · 2014: 4
- FWCI
- 1.32
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- Rett syndrome, MeCP2, cholesterol metabolism, cholesterol homeostasis, pathogenesis, therapeutic target
- MeSH terms
- Animals, Cholesterol, Female, Male, Mutation, Rett Syndrome, Methyl-CpG-Binding Protein 2
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