title: 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.affiliation: Department of Pediatrics, Shimane University School of Medicine, 89-1 Enya-cho, Izumo 693-8501, Japan.
authors.forename: Takehisa
authors.initials: T
authors.lastname: Fujiwaki
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Masaru
authors.initials: M
authors.lastname: Tasaka
authors.forename: Masaki
authors.initials: M
authors.lastname: Takayanagi
authors.forename: Mariko
authors.initials: M
authors.lastname: Isobe
authors.forename: Tamotsu
authors.initials: T
authors.lastname: Taketomi
mesh_terms: D000328:Adult; D002855:Chromatography, Thin Layer; D006801:Humans; D008297:Male; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods*; D013107:Sphingolipids / Q000032:analysis*; D014822:Vitreous Body / Q000737:chemistry*
chemical_list: D013107:Sphingolipids