Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome.

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

SUBMITTER: Zandl-Lang M 

PROVIDER: S-EPMC9026385 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature