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  • Title: Quantitation of a plasma biomarker profile for the early detection of Gaucher disease type 1 patients.
    Author: Menkovic I, Boutin M, Alayoubi A, Curado F, Bauer P, Mercier FE, Rivard GÉ, Auray-Blais C.
    Journal: Bioanalysis; 2022 Feb; 14(4):223-240. PubMed ID: 35118875.
    Abstract:
    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-Gb1 and lyso-Gb1 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.
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