Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases

Acid sphingomyelinase deficiency (ASMd, Niemann-Pick disease A/B) and Niemann-Pick type C disease (NPC) share core clinical symptoms. Initial diagnostic discrimination of these two rare lysosomal storage diseases is thus difficult. As sphingomyelin accumulates in ASMd as well as NPC, lysosphingomyel...

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Bibliographic Details
Published in:Analytical biochemistry 2017-05, Vol.525, p.73-77
Main Authors: Kuchar, L., Sikora, J., Gulinello, M.E., Poupetova, H., Lugowska, A., Malinova, V., Jahnova, H., Asfaw, B., Ledvinova, J.
Format: Article
Language:English
Subjects:
Biomarkers - blood
Case-Control Studies
Chromatography, Liquid - methods
Dried Blood Spot Testing - methods
Humans
Lysosphingomyelin
Mass spectrometry
Niemann-Pick A/B
Niemann-Pick C
Niemann-Pick Disease, Type A - blood
Niemann-Pick Disease, Type A - diagnosis
Niemann-Pick Disease, Type B - blood
Niemann-Pick Disease, Type B - diagnosis
Niemann-Pick Disease, Type C - blood
Niemann-Pick Disease, Type C - diagnosis
Phosphorylcholine - analogs & derivatives
Phosphorylcholine - blood
Screening
Spectrometry, Mass, Electrospray Ionization - methods
Sphingosine - analogs & derivatives
Sphingosine - blood
Sphingosylphosphorylcholine
Tandem Mass Spectrometry - methods
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Summary:Acid sphingomyelinase deficiency (ASMd, Niemann-Pick disease A/B) and Niemann-Pick type C disease (NPC) share core clinical symptoms. Initial diagnostic discrimination of these two rare lysosomal storage diseases is thus difficult. As sphingomyelin accumulates in ASMd as well as NPC, lysosphingomyelin (sphingosylphosphorylcholine) and its m/z 509 analog were suggested as biomarkers for both diseases. Herein we present results of simultaneous LC-ESI-MS/MS measurements of lysosphingomyelin and lysosphingomyelin 509 in plasma and dried blood spots (DBS) collected from ASMd and NPC patients and suggest that the plasma but not DBS levels of the two analytes allow differential biochemical screening of ASMd and NPC.
ISSN:0003-2697
1096-0309
DOI:10.1016/j.ab.2017.02.019