title: GC-EI-MS analysis of fatty acid composition in brain and serum of twitcher mouse.
abstract: Globoid cell leukodystrophy or Krabbe disease is an inherited autosomal recessive disorder caused by mutations in the galactosylceramidase gene. The objective of the study was to present information about the fatty acid (FA) composition of the brain and serum of twitcher mice, a mouse model of Krabbe disease, compared to wild type, in order to identify biomarker of disease progression. We defined the FA profiles by identifying the main components present in serum and brain using GC-EI-MS analysis. The FA percentage composition was measured and data were analyzed considering the disease and the mouse age as experimental factors. Significant correlations were established, both in brain and in serum, in the fatty acid percentage composition of twitcher compared to wild type mice. The most abundant saturated fatty acid in brain was the palmitic acid (C16:0) with mean values significantly increased in twitcher mouse (p = 0.0142); moreover, three monounsaturated, three polyunsaturated (PUFA) and a plasmalogen were significantly correlated to disease. In the serum highly significant differences were observed between the two groups for three polyunsaturated fatty acids. In fact, the docosahexaenoic acid (C22:6n3c) content was significantly increased (p = 0.0116), while the C20 PUFA (C20:3n6c and C20:5n3c) were significantly decreased in twitcher serum samples. Our study shows a specific FA profile that may help to define a possible pattern that could distinguish between twitcher and wild type; these data are likely to provide insight in the identification of new biomarkers to monitor the disease progression and thereby permit the critical analysis of therapeutic approaches.
authors.affiliation: Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Viale Bracci, 53100, Siena, Italy.
authors.forename: Assunta
authors.initials: A
authors.lastname: Zanfini
authors.forename: Elena
authors.initials: E
authors.lastname: Dreassi
authors.forename: Anna
authors.initials: A
authors.lastname: Berardi
authors.forename: Paola
authors.initials: P
authors.lastname: Piomboni
authors.forename: Elvira
authors.initials: E
authors.lastname: Costantino-Ceccarini
authors.forename: Alice
authors.initials: A
authors.lastname: Luddi
mesh_terms: D000704:Analysis of Variance; D000818:Animals; D001923:Brain Chemistry; D004195:Disease Models, Animal; D004281:Docosahexaenoic Acids / Q000032:analysis / Q000097:blood; D005227:Fatty Acids / Q000032:analysis* / Q000097:blood*; D005231:Fatty Acids, Unsaturated / Q000032:analysis / Q000097:blood; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000097:blood* / Q000235:genetics; D008810:Mice, Inbred C57BL; D008818:Mice, Neurologic Mutants; D019308:Palmitic Acid / Q000032:analysis / Q000097:blood
chemical_list: D005227:Fatty Acids; D005231:Fatty Acids, Unsaturated; D004281:Docosahexaenoic Acids; D019308:Palmitic Acid