Premium
Glycolipid Analysis of Different Tissues and Cerebrospinal Fluid in Type II Gaucher Disease
Author(s) -
Gornati R.,
Berra B.,
Montorfano G.,
Martini C.,
Ciana G.,
Ferrari P.,
Romano M.,
Bembi B.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1015137917508
Subject(s) - cerebrospinal fluid , glycolipid , stearic acid , central nervous system , pathology , cerebellum , peripheral nervous system , biology , spleen , nervous tissue , palmitic acid , pathophysiology , immunology , medicine , endocrinology , biochemistry , chemistry , fatty acid , organic chemistry , neuroscience
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.