Abstract
Lysosphingolipids are an N-deacetylated form of sphingolipids. Lysosphingolipids are considered as potential biomarkers of lysosomal storage disorders (LSD) such as Gaucher disease (GD), Fabry disease (FD), Krabbe disease (KD), and Nimann-Peak disease (NPD) as well as extremely rare LSD as GM1 and GM2 gangliosidoses. To date, there are various methods for assessing lysosphingolipid levels in blood plasma. However, one of the most promising is liquid chromatography tandem mass spectrometry (LC-MS/MS) that allows simultaneous assessment of the concentration of several lysosphingolipids (HexSph, LysoGb3, LysoGM1, LysoGM2, LysoSM and LysoSM509) in plasma, urine, dried blood spots. Despite the fact that the assessment of lysosphingolipids in blood plasma is the gold standard, the LC/MS/MS method in dried blood spots is a fast and reliable method for evaluation of lysosphingolipid profile in patients as a consequence identifying LSDs such as GD (HexSph), FD (LysoGb3), prosaposin deficiency (HexSph, LysoGb3), NPD type A / B and C (LysoSM and LysoSM509). Diagnostics of a number of LSDs by measuring of the lysosphingolipid concentrations in blood by LC/MS/MS is currently being carried out at the Research Center for Medical Genetic in Moscow. We used this method to assess the lysosphingolipid levels in Parkinson's disease associated with a mutations in the gene encoding lysosomal enzyme called glucocerebrosidase (GBA-PD). For the first time, increased level of HexSph (galactosylsphingosine (GalSph) and glucosylsphingosine (GlcSph) in blood of GBA-PD patients was shown that proposes us to make an assumption about the mechanism of GBA-PD pathogenesis. The possible involvement of these metabolites in the stabilization of neurotoxic forms of alpha synuclein in PD is discussed.
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