title: Gaucher disease: plasmalogen levels in relation to primary lipid abnormalities and oxidative stress.
abstract: Plasmalogens represent a unique class of phospholipids. Reduced red blood cell plasmalogen levels in Gaucher disease patients were reported, correlating to total disease burden. The relation between plasmalogen abnormalities in Gaucher disease patients and primary glycosphingolipid abnormalities, malonyldialdehyde levels, an indicator of lipid peroxidation, and the total antioxidant status was further investigated. Significant reduction of C16:0 and C18:0 plasmalogens in red blood cells of Gaucher disease patients was confirmed. In parallel, a significant increase in the glucosylceramide/ceramide ratio in red blood cell membranes, as well as an average 200-fold increase in plasma glucosylsphingosine levels was observed. Red blood cell malonyldialdehyde levels were significantly increased in patients, whereas their total antioxidant status was significantly reduced. A negative correlation between plasmalogen species and glucosylceramide, ceramide, glucosylceramide/ceramide ratio, glucosylsphingosine and malonyldialdehyde, significant for the C16:0 species and all the above parameters with the exception of malonyldialdehyde levels, was found along with a positive non-significant correlation with the total antioxidant status. Our results indicate that increased lipid peroxidation and reduced total antioxidant status exist in Gaucher disease patients. They demonstrate a clear link between plasmalogen levels and the primary glycolipid abnormalities characterizing the disorder and an association with the increased oxidative stress observed in Gaucher disease patients.
authors: Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
authors: Marina
authors: M
authors: Moraitou
authors: Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
authors: Evangelia
authors: E
authors: Dimitriou
authors: Department of Medical Biochemistry, Academic Medical Center, Amsterdam, The Netherlands.
authors: Nick
authors: N
authors: Dekker
authors: Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
authors: Ioannis
authors: I
authors: Monopolis
authors: Department of Medical Biochemistry, Academic Medical Center, Amsterdam, The Netherlands.
authors: Johannes
authors: J
authors: Aerts
authors: Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece. Electronic address: inchildh@otenet.gr.
authors: Helen
authors: H
authors: Michelakakis
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002518:Ceramides / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000378:metabolism; D005776:Gaucher Disease / Q000097:blood / Q000378:metabolism*; D005963:Glucosylceramides / Q000378:metabolism; D006801:Humans; D050356:Lipid Metabolism; D015227:Lipid Peroxidation; D008875:Middle Aged; D018384:Oxidative Stress; D010955:Plasmalogens / Q000378:metabolism*; D055815:Young Adult
chemical_list: D002518:Ceramides; D005963:Glucosylceramides; D010955:Plasmalogens
keywords: Ceramide; Gaucher disease; Glucosylceramide; Glucosylsphingosine; Oxidative stress; Plasmalogens