Evaluation of sphingolipids in vitreous bodies from a patient with Gaucher disease, using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry

Gaucher disease is a glycolipid storage disorder characterized by the accumulation of glucosylceramide in tissues. Using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry (DE MALDI-TOF-MS), we analyzed sphingolipids in vitreous bodies from a patient with...

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Bibliographic Details
Published in:Journal of chromatography. B 2004-06, Vol.806 (1), p.47-51
Main Authors: Fujiwaki, Takehisa, Yamaguchi, Seiji, Tasaka, Masaru, Takayanagi, Masaki, Isobe, Mariko, Taketomi, Tamotsu
Format: Article
Language:English
Subjects:
Adult
Analysis
Analytical, structural and metabolic biochemistry
Biological and medical sciences
Chromatography, Thin Layer
Fundamental and applied biological sciences. Psychology
General pharmacology
Humans
Male
Medical sciences
Pharmacology. Drug treatments
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization - methods
Sphingolipids
Sphingolipids - analysis
Vitreous Body - chemistry
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Summary:Gaucher disease is a glycolipid storage disorder characterized by the accumulation of glucosylceramide in tissues. Using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry (DE MALDI-TOF-MS), we analyzed sphingolipids in vitreous bodies from a patient with Gaucher disease who suffered from vitreous opacities. Crude lipids were extracted from the freeze-dried vitreous bodies with chloroform and methanol. After mild alkaline treatment of the crude lipids, a sphingolipid fraction was prepared and analyzed by DE MALDI-TOF-MS. The results were as follows: (a) the m/ z values of the ions found in the mass spectra for both the control and the Gaucher disease patient corresponded to different sphingomyelin species. (b) The mass spectrum of the Gaucher disease patient showed additional ions with m/ z values corresponding to different ceramide monohexoside (CMH) species. It was indicated that the accumulation of CMH in vitreous bodies from Gaucher disease patients could be easily detected with the DE MALDI-TOF-MS method.
ISSN:1570-0232
1873-376X
DOI:10.1016/j.jchromb.2004.02.027