Quantitation of a plasma biomarker profile for the early detection of Gaucher disease type 1 patients.
Iskren MenkovicMichel BoutinAbdulfatah AlayoubiFilipa CuradoPeter BauerFrançois E MercierGeorges-Étienne RivardChristiane Auray-BlaisPublished in: Bioanalysis (2022)
Aim: Gaucher disease (GD) is caused by a deficiency of the lysosomal enzyme acid β-glucocerebrosidase. Recent metabolomic studies highlighted several new metabolites increased in the plasma of GD patients. We aimed to develop and validate a UPLC-MS/MS method allowing a relative quantitation of lyso-Gb 1 and lyso-Gb 1 analogs -28, -12, -2, +14, +16 and +18 Da in addition to sphingosylphosphorylcholine, N -palmitoyl- O -phosphocholine to study potential correlations with clinical manifestations. Methodology & results: Following solid-phase extraction, plasma samples were evaporated and resuspended in 100 μl of resuspension solution. Three microliter is injected into the UPLC-MS/MS for analysis. Conclusion: All biomarkers studied were increased in GD patients. Significant correlations were observed between specific analogs and hematological, and visceral complications, as well as overall disease severity.
Keyphrases
- ms ms
- end stage renal disease
- newly diagnosed
- liquid chromatography tandem mass spectrometry
- ejection fraction
- chronic kidney disease
- solid phase extraction
- prognostic factors
- high performance liquid chromatography
- simultaneous determination
- mass spectrometry
- adipose tissue
- patient reported outcomes
- type diabetes
- high resolution
- liquid chromatography
- molecular docking
- replacement therapy
- gas chromatography mass spectrometry
- patient reported