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Glycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion.

ABSTRACT: AIM:Fabry disease is caused by ?-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 ?-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

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Glycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion.

Kamani Mustafa A MA   Provençal Philippe P   Boutin Michel M   Pacienza Natalia N   Fan Xin X   Novak Anton A   Huang Tonny C TC   Binnington Beth B   Au Bryan C BC   Auray-Blais Christiane C   Lingwood Clifford A CA   Medin Jeffrey A JA  

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]

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