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.

Abstract

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.

• Authors: Takehisa Fujiwaki, Seiji Yamaguchi, Masaru Tasaka, Masaki Takayanagi, Mariko Isobe, Tamotsu Taketomi
• Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (J Chromatogr B Analyt Technol Biomed Life Sci) Vol. 806 Issue 1 Pg. 47-51 (Jun 25 2004) ISSN: 1570-0232 [Print] Netherlands
• PMID: 15149610 (Publication Type: Journal Article)

Chemical References

• Sphingolipids

Topics

• Adult
• Chromatography, Thin Layer
• Humans
• Male
• Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization (methods)
• Sphingolipids (analysis)
• Vitreous Body (chemistry)