Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease.
The lipid composition or the liver, spleen, brain, cerebellum and cerebrospinal fluid of a Gaucher disease type II patient who died at the age of 5 months was examined. The glycolipid analysis demonstrated a marked increase of total amounts not only in the peripheral tissues but also in the brain cerebellum and cerebrospinal fluid, with a prevalence of glucosylceramide. A reduction in gangliosides was observed in all the analysed tissues with a relative increase of GD3 in the nervous tissue. The fatty acid composition of glucosylceramide showed a prevalence of stearic acid in the central nervous system, while in the peripheral tissues palmitic acid was prevalent. This result suggests a different origin of the glucosylceramide stored in different tissues. The generalized reduction of gangliosides and their modified distribution together with the central nervous system GD3 increment represent a new observation. These data could be useful in the effort to clarify the pathophysiological mechanism of brain damage in neuronopathic Gaucher disease.
Gornati
R
R
Department of Structural and Functional Biology, University of Insubria, Varese, Italy.
Berra
B
B
Montorfano
G
G
Martini
C
C
Ciana
G
G
Ferrari
P
P
Romano
M
M
Bembi
B
B
D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D002531:Cerebellum / Q000737:chemistry / Q000473:pathology; D005260:Female; D005677:G(M1) Ganglioside / Q000032:analysis / Q000134:cerebrospinal fluid; D005732:Gangliosides / Q000032:analysis / Q000134:cerebrospinal fluid; D005776:Gaucher Disease / Q000134:cerebrospinal fluid / Q000473:pathology / Q000503:physiopathology; D005963:Glucosylceramides / Q000032:analysis / Q000134:cerebrospinal fluid; D006017:Glycolipids / Q000032:analysis* / Q000134:cerebrospinal fluid; D006801:Humans; D007223:Infant; D007790:Lactosylceramides / Q000032:analysis / Q000134:cerebrospinal fluid; D008099:Liver / Q000737:chemistry / Q000473:pathology; D013154:Spleen / Q000737:chemistry / Q000473:pathology
D005732:Gangliosides; D005963:Glucosylceramides; D006017:Glycolipids; D007790:Lactosylceramides; D005677:G(M1) Ganglioside; C018835:asialo GM1 ganglioside; C028201:monosialosylpentahexosyl ceramide