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

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 o

SUBMITTER: Kamani MA 

PROVIDER: S-EPMC5242178 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature