Scavenger receptor B1 post-translational modifications in Rett syndrome
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The modulation of the HDL receptor scavenger receptor B1 (SRB1) was evaluated in skin fibroblasts isolated from patients with Rett syndrome (RTT), a genetic form of infantile autism. Patients showed an altered plasma lipid profile, while their skin fibroblasts showed a dramatic reduction in SRB1 (immunogold, Western blot and immunohistochemistry). The decreased SRB1 levels were demonstrated to be the consequence of its binding with 4‐hydroxy‐2‐nonenal (4HNE), a product of lipid peroxidation, and its increased ubiquitination. Our findings show for the first time a loss of SRB1 in RTT cells and its relationship with a chronic oxidative stress status.
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Only a subset of RTT patients exhibit increased serum cholesterol and/or triglycerides.
“Consistently, only a subset of RTT patients exhibit increased serum cholesterol and/or triglycerides [15,16,173].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [173]
Section 3.1 and Table 1 report higher mean total cholesterol in RTT patients than in controls. Table 1 shows no increase in mean triglycerides, and the paper does not report how many individual patients had elevated cholesterol or triglycerides. It therefore supports the cholesterol finding but not the claim that only a subset of patients had either elevation. (LLM, conf=0.84)
Experimental — accuracy not yet measuredThe first report linking RTT to cholesterol metabolism demonstrated enhanced levels of plasma total cholesterol, LDL-cholesterol and HDL-cholesterol in RTT patients, whereas no significant change was observed in the amount of total triglycerydes.
“The first report linking RTT to cholesterol metabolism demonstrated enhanced levels of plasma total cholesterol, LDL (low density lipoprotein)-cholesterol and HDL (High density lipoprotein)-cholesterol in RTT patients, whereas no significant change was observed in the amount of total triglycerydes [102], suggesting that dysbalance in plasma lipid profile is restricted to cholesterol metabolism.”
From Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome (2019) · cites this paper as [102]
A strong reduction of scavenger receptor class B type 1 (SR-B1) expression was reported in fibroblasts derived from RTT patients.
“In addition, the authors reported a strong reduction of scavenger receptor class B type 1 (SR-B1) expression in fibroblasts derived from RTT patients.”
From Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome (2019) · cites this paper as [102]
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Horihata, K., Yoshioka, S., Sano, M., Yamamoto, Y., Kimura, K., Skarzynski, D. J., & Okuda, K. (2016) · Reproduction Fertility and Development · doi:10.1071/rd15538 · Cited by 8 · see citing works
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Self-citationDeregulated Nrf2-Keap1-BACH1 axis in autism spectrum disorder
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Self-citationCordone, V., Pecorelli, A., & Valacchi, G. (2022) · Redox Experimental Medicine · doi:10.1530/rem-22-0004 · Cited by 5 · see citing works
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Buchovecky, C. M., Hill, M., Borkey, J. M., Kyle, S. M., & Justice, M. J. (2013) · Current Protocols in Mouse Biology · doi:10.1002/9780470942390.mo130157 · Cited by 4 · see citing works
Pasqui, A., Cicaloni, V., Tinti, L., Guiotto, A., Tinti, C., Mori, A., Bruttini, M., Hayek, J., Pecorelli, A., Salvini, L., et al. (2023) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2023.109860 · Cited by 4 · see citing works
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Borloz, E. (2021) · theses.fr (ABES) · doi:10.70675/6910a242za2edz4509zbc5aze548081377dd
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Self-citation
- Authors
- Sticozzi, C., Belmonte, G., Pecorelli, A., Cervellati, F., Leoncini, S., Signorini, C., Ciccoli, L., De Felice, C., Hayek, J., & Valacchi, G.
- Affiliations
- University of Ferrara (IT)
- University of Siena (IT)
- Corresponding author
- Valacchi, Giuseppe
- ORCID
- Venue
- FEBS Letters
- Publisher
- Wiley
- Published
- 2013-05-24
- Volume
- 587
- Issue
- 14
- Pages
- 2199-2204
- ISSN
- 0014-5793 (ISSN-L)
- 1873-3468
- OpenAlex
- W1980378211
- Cited by
- 70
- References
- 31
- Citations by year
- 2026: 1 · 2025: 5 · 2024: 6 · 2023: 8 · 2022: 4 · 2021: 6 · 2020: 3 · 2019: 6 · 2018: 2 · 2017: 6 · 2016: 4 · 2015: 3 · 2014: 10 · 2013: 5
- FWCI
- 4.87
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- FEBS Letters (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System University of Ferrara (University of Ferrara) (submittedVersion, other-oa)
- Use Siena air (University of Siena) (submittedVersion)
- Funders
- Regione Toscana
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Keywords
- Rett syndrome, scavenger receptor class B type I, post-translational modification, 4-hydroxynonenal, lipid peroxidation, ubiquitination, oxidative stress, HDL receptor, plasma lipid profile, dermal fibroblasts, infantile autism
- MeSH terms
- Adolescent, Adult, Aldehydes, Cells, Cultured, Child, Female, Fibroblasts, Humans, Lipids, Lipid Peroxidation, Rett Syndrome, Case-Control Studies, Oxidative Stress, Scavenger Receptors, Class B, Ubiquitination, Young Adult
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