Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome.
LC-MS
Rett syndrome
biomarker
lipidomics
metabolomics
rare diseases
Journal
Metabolites
ISSN: 2218-1989
Titre abrégé: Metabolites
Pays: Switzerland
ID NLM: 101578790
Informations de publication
Date de publication:
25 Mar 2022
25 Mar 2022
Historique:
received:
11
02
2022
revised:
23
03
2022
accepted:
24
03
2022
entrez:
21
4
2022
pubmed:
22
4
2022
medline:
22
4
2022
Statut:
epublish
Résumé
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 (
Identifiants
pubmed: 35448478
pii: metabo12040291
doi: 10.3390/metabo12040291
pmc: PMC9026385
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : FWF Austrian Science Fund
ID : T 1343-B to MZL
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