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 GD(3) 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 GD(3) 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.

Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease / R., Gornati; B., Berra; G., Montorfano; C., Martini; G., Ciana; Ferrari, Paola; M., Romano; B., Bembi. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 0141-8955. - 25:(2002), pp. 47-55.

Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease

FERRARI, Paola;
2002

Abstract

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 GD(3) 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 GD(3) 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.
25
47
55
Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease / R., Gornati; B., Berra; G., Montorfano; C., Martini; G., Ciana; Ferrari, Paola; M., Romano; B., Bembi. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 0141-8955. - 25:(2002), pp. 47-55.
R., Gornati; B., Berra; G., Montorfano; C., Martini; G., Ciana; Ferrari, Paola; M., Romano; B., Bembi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/305849
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