Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome
Open accessAbstract
Rett syndrome (RTT) is defined as a rare disease caused by mutations of the methyl-CpG binding protein 2 (MECP2). It is one of the most common causes of genetic mental retardation in girls, characterized by normal early psychomotor development, followed by severe neurologic regression. Hitherto, RTT lacks a specific biomarker, but altered lipid homeostasis has been found in RTT model mice as well as in RTT patients. We performed LC-MS/MS lipidomics analysis to investigate the cerebrospinal fluid (CSF) and plasma composition of patients with RTT for biochemical variations compared to healthy controls. In all seven RTT patients, we found decreased CSF cholesterol levels compared to age-matched controls (n = 13), whereas plasma cholesterol levels were within the normal range in all 13 RTT patients compared to 18 controls. Levels of phospholipid (PL) and sphingomyelin (SM) species were decreased in CSF of RTT patients, whereas the lipidomics profile of plasma samples was unaltered in RTT patients compared to healthy controls. This study shows that the CSF lipidomics profile is altered in RTT, which is the basis for future (functional) studies to validate selected lipid species as CSF biomarkers for RTT.
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Lipidomic analyses revealed reduced cholesterol levels in cerebrospinal fluid, but not plasma, of Rett syndrome patients compared with age-matched healthy controls.
“Lipidomic analyses performed by liquid chromatography-tandem mass spectrometry (LC-MS/MS) on CSF and plasma of RTT patients revealed reduced cholesterol levels in the CSF, but not in plasma, compared with agematched healthy controls (Zandl-Lang et al., 2022).”
From Impaired astrocyte-to-neuron cholesterol trafficking drives synaptic dysfunction in Rett syndrome (2026) · cites this paper as Zandl-Lang et al., 2022
Reduced cholesterol levels have been reported in the cerebrospinal fluid of RTT patients.
“Moreover, reduced cholesterol levels have been recently reported in the cerebrospinal fluid of RTT patients (Zandl-Lang et al., 2022).”
From Impaired astrocyte-to-neuron cholesterol trafficking drives synaptic dysfunction in Rett syndrome (2026) · cites this paper as Zandl-Lang et al., 2022
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“Lipidomic analyses performed by liquid chromatography-tandem mass spectrometry (LC-MS/MS) on CSF and plasma of RTT patients revealed reduced cholesterol levels in the CSF, but not in plasma, compared with age-matched healthy controls (Zandl-Lang et al., 2022).”
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ABNORMALITAS SELULER DAN MOLEKULER PADA RETT SYNDROME YANG DIPENGARUHI MUTASI GEN MeCP2
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Rett Syndrome: Specific MECP2 Variants are Associated With Elevated Serum Neurofilament Light Chain
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- Authors
- Zandl-Lang, M., Züllig, T., Trötzmüller, M., Naegelin, Y., Abela, L., Wilken, B., Scholl-Buergi, S., Karall, D., Kappos, L., Köfeler, H., & Plecko, B.
- Affiliations
- Department of Paediatrics and Adolescent Medicine, Division of General Paediatrics, University Childrens’ Hospital Graz, Medical University of Graz, 8036 Graz, Austria
- University of Graz (AT)
- Medical University of Graz (AT)
- University of Basel (CH)
- University Children's Hospital Zurich (CH)
- Klinikum Kassel (DE)
- Clinic for Paediatrics I, Inherited Metabolic Disorders, Medical, University of Innsbruck, 6020 Innsbruck, Austria
- Innsbruck Medical University (AT)
- Corresponding author
- Köfeler, Harald
- ORCID
- Venue
- Metabolites
- Publisher
- MDPI AG
- Published
- 2022-03-25
- Volume
- 12
- Issue
- 4
- Pages
- 291
- ISSN
- 2218-1989 (ISSN-L)
- PMC
- PMC9026385
- OpenAlex
- W4220746681
- Cited by
- 30
- References
- 67
- Citations by year
- 2026: 3 · 2025: 9 · 2024: 7 · 2023: 8 · 2022: 3
- FWCI
- 4.07
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Metabolites (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Zurich Open Repository and Archive (University of Zurich) (acceptedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion, cc-by)
- Zurich Open Repository and Archive (University of Zurich)
- Funders
- FWF Austrian Science Fund (T 1343-B to MZL)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Metabolomics and Mass Spectrometry Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- Rett syndrome, MeCP2, cerebrospinal fluid, plasma, lipidome, cholesterol, phospholipids, sphingomyelin, lipid biomarkers, lipid homeostasis, neurodevelopmental disorders
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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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