Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C.
HAD–MS/MS
LC–MS/MS
N-acyl-phospholipids
Niemann–Pick disease type C
biomarkers
chemical derivatization
chemical diagnosis
identification
lysosphingomyelin-509
structural determination
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
10 Oct 2019
10 Oct 2019
Historique:
received:
26
09
2019
revised:
06
10
2019
accepted:
08
10
2019
entrez:
30
10
2019
pubmed:
30
10
2019
medline:
1
4
2020
Statut:
epublish
Résumé
Niemann-Pick disease type C (NPC) is an autosomal recessive disorder caused by the mutation of cholesterol-transporting proteins. In addition, early treatment is important for good prognosis of this disease because of the progressive neurodegeneration. However, the diagnosis of this disease is difficult due to a variety of clinical spectrum. Lysosphingomyelin-509, which is one of the most useful biomarkers for NPC, was applied for the rapid and easy detection of NPC. The fact that its chemical structure was unknown until recently implicates the unrevealed pathophysiology and molecular mechanisms of NPC. In this study, we aimed to elucidate the structure of lysosphingomyelin-509 by various mass spectrometric techniques. As our identification strategy, we adopted analytical and organic chemistry approaches to the serum of patients with NPC. Chemical derivatization and hydrogen abstraction dissociation-tandem mass spectrometry were used for the determination of function groups and partial structure, respectively. As a result, we revealed the exact structure of lysosphingomyelin-509 as
Identifiants
pubmed: 31658747
pii: ijms20205018
doi: 10.3390/ijms20205018
pmc: PMC6829288
pii:
doi:
Substances chimiques
Biomarkers
0
Lipids
0
Phosphorylcholine
107-73-3
Serine
452VLY9402
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Japan Society for the Promotion of Science
ID : 18K15699
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