In several neurodegenerative diseases, sphingolipid metabolism is deeply deregulated, leading to the expression of abnormal membrane sphingolipid patterns and altered plasma membrane organization. In this paper, we review the potential importance of these alterations to the pathogenesis of these diseases and focus the reader’s attention on some secondary alterations of sphingolipid metabolism that have been sporadically reported in the literature. Moreover, we present a detailed analysis of the lipid composition of different central nervous system and extraneural tissues from the acid sphingomyelinase-deficient mouse, the animal model for Niemann-Pick disease type A, characterized by the accumulation of sphingomyelin. Our data show an unexpected, tissue specific selection of the accumulated molecular species of sphingomyelin, and an accumulation of GM3 and GM2 gangliosides in both neural and extraneural tissues, that cannot be solely explained by the lack of acid sphingomyelinase.

Secondary alterations of sphingolipid metabolism in lysosomal storage diseases / E. Chiricozzi, S. Prioni, E..H. Schuchman, V.L. Chigorno, A.E.G. Prinetti, S. Sonnino. - In: THE FEBS JOURNAL. - ISSN 1742-464X. - 278:Suppl. 1(2011), pp. 260-260. ((Intervento presentato al 36. convegno FEBS Congress tenutosi a Torino nel 2011.

Secondary alterations of sphingolipid metabolism in lysosomal storage diseases

E. Chiricozzi
Primo
;
S. Prioni
Secondo
;
V.L. Chigorno;A.E.G. Prinetti
Penultimo
;
S. Sonnino
Ultimo
2011

Abstract

In several neurodegenerative diseases, sphingolipid metabolism is deeply deregulated, leading to the expression of abnormal membrane sphingolipid patterns and altered plasma membrane organization. In this paper, we review the potential importance of these alterations to the pathogenesis of these diseases and focus the reader’s attention on some secondary alterations of sphingolipid metabolism that have been sporadically reported in the literature. Moreover, we present a detailed analysis of the lipid composition of different central nervous system and extraneural tissues from the acid sphingomyelinase-deficient mouse, the animal model for Niemann-Pick disease type A, characterized by the accumulation of sphingomyelin. Our data show an unexpected, tissue specific selection of the accumulated molecular species of sphingomyelin, and an accumulation of GM3 and GM2 gangliosides in both neural and extraneural tissues, that cannot be solely explained by the lack of acid sphingomyelinase.
sphingolipids; sphingomyelin; glycosphingolipids; gangliosides; sphingolipid storage diseases; Niemann-Pick
Settore BIO/10 - Biochimica
2011
SIB
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/173844
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