PMID: 11934514Apr 6, 2002Paper

Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients

Brain & Development
Takehisa FujiwakiT Taketomi

Abstract

Sphingolipidoses are caused by defects of enzymes involved in the hydrolysis of sphingolipids. Using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry (DE MALDI-TOF-MS), we analyzed sphingolipids in cultured skin fibroblasts from patients with sphingolipidoses, including: (a) Farber disease (FD, acid ceramidase deficiency); (b) Gaucher disease (GD); (c) Niemann-Pick disease type C (NPDC); and (d) GM1-gangliosidosis (GM1G). Crude lipids were extracted from about 50 mg wet weight of cultured skin fibroblasts. After mild alkaline treatment, a sphingolipid fraction was prepared from the crude lipids and analyzed by DE MALDI-TOF-MS. The results were as follows: (a) in fibroblasts from the FD patient, the ceramide/sphingomyelin and ceramide/monohexosylceramide ratios were both significantly high; (b) in the GD patient, the glucosylceramide/sphingomyelin ratio was increased; on the other hand; (c) in the NPDC patient, the monohexosylceramide/sphingomyelin ratio was within normal range; and (d) in the GM1G patient, no specific data were obtained. Sphingolipids in cultured fibroblasts can be evaluated by DE MALDI-TOF-MS, whereas GM1-ganglioside or its asialo derivatives are not detectable. W...Continue Reading

References

Feb 1, 1992·Acta Paediatrica Japonica; Overseas Edition·T FujiwakiK Furusho
Jan 31, 1995·Clinica Chimica Acta; International Journal of Clinical Chemistry·T FujiwakiC Mori
Apr 11, 2001·Proceedings of the National Academy of Sciences of the United States of America·M ZhangJ A Hanover
Jul 10, 2001·British Journal of Haematology·N J Weinreb

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Citations

May 24, 2011·Analytical and Bioanalytical Chemistry·Philippa J HartMalcolm R Clench
Mar 31, 2005·Biochemical and Biophysical Research Communications·Yun HuangYingnian Yu
May 20, 2004·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Takehisa FujiwakiTamotsu Taketomi
Aug 4, 2005·Acta Biochimica Et Biophysica Sinica·Yun HuangJun Yang
Jun 30, 2019·Analytical Biochemistry·Cosima Damiana CalvanoTommaso R I Cataldi
Aug 28, 2021·International Journal of Molecular Sciences·Yuko FujiwaraKazuaki Yokoyama
Jan 17, 2009·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Christopher A HaynesM Cameron Sullards

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