Brain lipid composition in grey-lethal mutant mouse characterized by severe malignant osteopetrosis

Alessandro Prinetti, Federica Rocchetta, Elvira Costantino, Annalisa Frattini, Elena Caldana, Francesca Rucci, Arianna Bettiga, Pietro L. Poliani, Vanna Chigorno, Sandro Sonnino

Research output: Contribution to journalArticlepeer-review

Abstract

The grey-lethal mouse (gl/gl) mutant most closely resembles the severe human malignant autosomal recessive OSTM1-dependent form of osteopetrosis that it has been described to be associated with neurological abnormalities. For this reason, we have analyzed the brain lipid composition (gangliosides, neutral glycosphingolipids, phospholipids and cholesterol), from gl/gl mice at different ages of development and compared with wild type mice. Both cholesterol and glycerophospholipid content and pattern in the gl/gl and control mice were very similar. In contrast, significant differences were observed in the content of several sphingolipids. Higher amount of the monosialogangliosides GM2 and GM3, and lower content of sphingomyelin, sulfatide and galactosylceramide were observed in the gl/gl brain with respect to controls. The low content of sphingomyelin, sulfatide and galactosylceramide is consistent with the immunohistochemical results showing that in the grey-lethal brain significant depletion and disorganization of the myelinated fibres is present, thus supporting the hypothesis that loss of function of the OSTM1 causes neuronal impairment and myelin deficit.

Original languageEnglish
Pages (from-to)623-633
Number of pages11
JournalGlycoconjugate Journal
Volume26
Issue number6 SPEC. ISS.
DOIs
Publication statusPublished - Aug 2009

Keywords

  • Demyelination
  • Gangliosides
  • Myelin
  • Ostepetrosis
  • Sphingolipids

ASJC Scopus subject areas

  • Biochemistry
  • Cell Biology
  • Molecular Biology

Fingerprint Dive into the research topics of 'Brain lipid composition in grey-lethal mutant mouse characterized by severe malignant osteopetrosis'. Together they form a unique fingerprint.

Cite this