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Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders.

Abstract：

:In lysosomal glycosphingolipid storage disorders, marked elevations in corresponding glycosphingoid bases (lyso-glycosphingolipids) have been reported, such as galactosylsphingosine in Krabbe disease, glucosylsphingosine in Gaucher disease and globotriaosylsphingosine in Fabry disease. Using LC–MS/MS, we comparatively investigated the occurrence of abnormal lyso-glycosphingolipids in tissues and plasma of mice with deficiencies in lysosomal α-galactosidase A, glucocerebrosidase and galactocerebrosidase. The nature and specificity of lyso-glycosphingolipid abnormalities are reported and compared to that in correspondingly more abundant N-acylated glycosphingolipids. Specific elevations in tissue and plasma globotriaosylsphingosine were detected in α-galactosidase A-deficient mice; glucosylsphingosine in glucocerebrosidase-deficient mice and galactosylsphingosine in galactocerebrosidase-deficient animals. A similar investigation was conducted for two mouse models of Niemann Pick type C (Npc1nih and Npc1nmf164), revealing significant tissue elevation of several neutral glycosphingolipids and concomitant increased plasma glucosylsphingosine. This latter finding was recapitulated by analysis of plasma of NPC patients. The value of plasma glucosylsphingosine in biochemical confirmation of the diagnosis of NPC is discussed.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Ferraz MJ,Marques AR,Gaspar P,Mirzaian M,van Roomen C,Ottenhoff R,Alfonso P,Irún P,Giraldo P,Wisse P,Sá Miranda C,Overkleeft HS,Aerts JM

doi

10.1016/j.ymgme.2015.12.006

subject

Has Abstract

pub_date

2016-02-01 00:00:00

pages

186-93

issue

2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(15)30090-1

journal_volume

117

pub_type

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