Dataset Information
Glycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion.
Ontology highlight
ABSTRACT: Aim
Fabry disease is caused by α-galactosidase A deficiency leading to accumulation of globotriaosylceramide (Gb3) in tissues. Clinical manifestations do not appear to correlate with total Gb3 levels. Studies examining tissue distribution of specific acyl chain species of Gb3 and upstream glycosphingolipids are lacking.Material & methods/results
Thorough characterization of the Fabry mouse sphingolipid profile by LC-MS revealed unique Gb3 acyl chain storage profiles. Storage extended beyond Gb3; all Fabry tissues also accumulated monohexosylceramides. Depletion of ABCB1 had a complex effect on glycosphingolipid storage.Conclusion
These data provide insights into how specific sphingolipid species correlate with one another and how these correlations change in the α-galactosidase A-deficient state, potentially leading to the identification of more specific biomarkers of Fabry disease.
SUBMITTER: Kamani MA
PROVIDER: S-EPMC5242178 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
Publications
Glycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion.
Future science OA 20161013 4
<h4>Aim</h4>Fabry disease is caused by α-galactosidase A deficiency leading to accumulation of globotriaosylceramide (Gb<sub>3</sub>) in tissues. Clinical manifestations do not appear to correlate with total Gb<sub>3</sub> levels. Studies examining tissue distribution of specific acyl chain species of Gb<sub>3</sub> and upstream glycosphingolipids are lacking.<h4>Material & methods/results</h4>Thorough characterization of the Fabry mouse sphingolipid profile by LC-MS revealed unique Gb<sub>3</su ...[more]