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.