Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Zandl-Lang, M; Züllig, T; Trötzmüller, M; Naegelin, Y; Abela, L; Wilken, B; Scholl-Buergi, S; Karall, D; Kappos, L; Köfeler, H; Plecko, B.
Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome.
Metabolites. 2022; 12(4): 291
Doi: 10.3390/metabo12040291
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- Führende Autor*innen der Med Uni Graz
- Köfeler Harald
- Zandl-Lang Martina
- Co-Autor*innen der Med Uni Graz
- Plecko Barbara
- Trötzmüller Martin
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- Abstract:
- 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.
- Find related publications in this database (Keywords)
- rare diseases
- Rett syndrome
- LC-MS
- metabolomics
- lipidomics
- biomarker