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Sphingolipid activator proteins in a human hereditary renal disease with deposition of disialogangliosides.

Abstract
Congenital nephrotic syndrome of the Finnish type is a recessively inherited renal disease with glomerular deposits of the disialoganglioside O-acetyl-GD3. Sphingolipid activator proteins (saposins) stimulate the degradation of glycosphingolipids by lysosomal enzymes, and defects in saposins cause accumulation of substrate lipids in the affected tissues in lysosomal storage disease. Here we report a study of the role of saposins in the accumulation of O-acetyl-GD3 in kidneys of congenital nephrotic syndrome patients. At the mRNA level, the expression of saposin precursor in diseased kidneys appeared normal, and the nucleotide sequence analysis of cDNA clones did not reveal abnormalities in the prosaposin gene. Immunohistologically, saposins were localized mainly to the epithelial cells of the distal renal tubules or to the parietal epithelial cells of glomeruli. In the nephrotic syndrome kidneys, the staining pattern was highly granular and appeared mostly in the apical part of the epithelial lining, unlike the control kidneys. These results show that a major site of ganglioside metabolism is located in the distal nephron. Furthermore, these results suggest that saposins are not directly involved in the metabolism of the terminal sialic acids of disialogangliosides in the nephrotic syndrome kidneys.
AuthorsA Haltia, M L Solin, H Jalanko, C Holmberg, A Miettinen, H Holthöfer
JournalThe Histochemical journal (Histochem J) Vol. 28 Issue 10 Pg. 681-7 (Oct 1996) ISSN: 0018-2214 [Print] Netherlands
PMID8950597 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Gangliosides
  • Glycoproteins
  • PSAP protein, human
  • Saposins
  • Sphingolipid Activator Proteins
  • sialogangliosides
Topics
  • Adult
  • Blotting, Northern
  • Blotting, Western
  • Child
  • Fluorescent Antibody Technique, Indirect
  • Gangliosides (metabolism)
  • Glycoproteins (analysis, genetics)
  • Humans
  • Infant
  • Kidney Transplantation
  • Molecular Sequence Data
  • Nephrotic Syndrome (metabolism)
  • Point Mutation
  • Saposins
  • Sphingolipid Activator Proteins

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