Plasmalogen levels in Gaucher disease.
Plasmalogens represent a unique type of phospholipids characterized by the presence of a vinyl-ether bond at the sn-1 position of the glycerol backbone. Peroxisomes are essential in their biosynthesis. Their suggested functions include protection against oxidative stress, participation in signal transduction, membrane fusion events, cholesterol transport and membrane trafficking, processes known to be disturbed in sphingolipidoses. We here report on red blood cell membrane plasmalogen levels in Gaucher disease patients. Plasmalogen levels were measured as their dimethylacetal derivatives (DMA) by gas chromatography in lipid extracts of erythrocytes from 15 patients. Their relative amount was estimated as the ratio between C18:0 DMA and methylstearate (C18:0), as well as C16:0 DMA and methylpalmitate (C16:0). Statistically significant lower levels of both plasmalogen species were observed in Gaucher disease patients compared to normal individuals. Furthermore, a negative correlation between plasmalogen levels and chitotriosidase was observed in the patients, which was statistically significant for the C18:0 species. Upon therapy, a significant rise of plasmalogen levels and fall in chitotriosidase activity was observed. However, C18:0 DMA/C18:0 was still significantly lower in Gaucher disease patients compared to controls and the negative correlation to chitotriosidase persisted. At both time points there was no indication of an overt peroxisomal dysfunction, very long chain fatty acid, phytanate and pristanate levels being normal. In conclusion, reduced plasmalogen levels that show a significant rise following treatment and a negative correlation to total disease burden, as expressed by chitotriosidase activity, are observed in Gaucher disease.
Moraitou
Marina
M
Department of Enzymology and Cellular Function, Institute of Child Health, Athens 11527, Greece.
Dimitriou
Evangelia
E
Zafeiriou
Dimitrios
D
Reppa
Constantina
C
Marinakis
Theodoros
T
Sarafidou
Jasmin
J
Michelakakis
Helen
H
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002849:Chromatography, Gas; D004910:Erythrocyte Membrane / Q000737:chemistry*; D005227:Fatty Acids / Q000032:analysis; D005776:Gaucher Disease / Q000097:blood* / Q000188:drug therapy; D006596:Hexosaminidases / Q000097:blood / Q000378:metabolism; D006801:Humans; D007223:Infant; D008875:Middle Aged; D010955:Plasmalogens / Q000032:analysis*
D005227:Fatty Acids; D010955:Plasmalogens; D006596:Hexosaminidases; C086400:chitotriosidase