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

L. Kuchar; J. Sikora; M. E. Gulinello; H. Poupetova; A. Lugowska; V. Malinova; H. Jahnova; B. Asfaw; J. Ledvinova

doi:10.1016/j.ab.2017.02.019

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

L. Kuchar, J. Sikora, M. E. Gulinello, H. Poupetova, A. Lugowska, V. Malinova, H. Jahnova, B. Asfaw, J. Ledvinova

Neuroscience

Research output: Contribution to journal › Article › peer-review

50 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	73-77
Number of pages	5
Journal	Analytical Biochemistry
Volume	525
DOIs	https://doi.org/10.1016/j.ab.2017.02.019
State	Published - May 15 2017

Keywords

Lysosphingomyelin
Mass spectrometry
Niemann-Pick A/B
Niemann-Pick C
Screening
Sphingosylphosphorylcholine

ASJC Scopus subject areas

Biophysics
Biochemistry
Molecular Biology
Cell Biology

Access to Document

10.1016/j.ab.2017.02.019

Cite this

@article{f586942143a24d4380c4998a8bc1653a,

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

abstract = "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.",

keywords = "Lysosphingomyelin, Mass spectrometry, Niemann-Pick A/B, Niemann-Pick C, Screening, Sphingosylphosphorylcholine",

author = "L. Kuchar and J. Sikora and Gulinello, {M. E.} and H. Poupetova and A. Lugowska and V. Malinova and H. Jahnova and B. Asfaw and J. Ledvinova",

note = "Publisher Copyright: {\textcopyright} 2017 Elsevier Inc.",

year = "2017",

month = may,

day = "15",

doi = "10.1016/j.ab.2017.02.019",

language = "English (US)",

volume = "525",

pages = "73--77",

journal = "Analytical Biochemistry",

issn = "0003-2697",

publisher = "Academic Press Inc.",

}

TY - JOUR

T1 - Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases

AU - Kuchar, L.

AU - Sikora, J.

AU - Gulinello, M. E.

AU - Poupetova, H.

AU - Lugowska, A.

AU - Malinova, V.

AU - Jahnova, H.

AU - Asfaw, B.

AU - Ledvinova, J.

PY - 2017/5/15

Y1 - 2017/5/15

N2 - 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.

AB - 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.

KW - Lysosphingomyelin

KW - Mass spectrometry

KW - Niemann-Pick A/B

KW - Niemann-Pick C

KW - Screening

KW - Sphingosylphosphorylcholine

UR - http://www.scopus.com/inward/record.url?scp=85014863349&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85014863349&partnerID=8YFLogxK

U2 - 10.1016/j.ab.2017.02.019

DO - 10.1016/j.ab.2017.02.019

M3 - Article

C2 - 28259515

AN - SCOPUS:85014863349

SN - 0003-2697

VL - 525

SP - 73

EP - 77

JO - Analytical Biochemistry

JF - Analytical Biochemistry

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this