Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders

Hum Genet. 1992 Jul;89(5):513-8. doi: 10.1007/BF00219176.

Abstract

Cultured skin fibroblasts from controls and patients with lysosomal storage diseases were loaded with GM1 ganglioside that had been labelled with tritium in its ceramide moiety. After a 65-h or 240-h incubation, a large percentage of this ganglioside remained undegraded in GM1 gangliosidoses, whereas in the other storage diseases studied, one of its metabolites accumulated by 2-4 fold relative to controls. Labelled GM2 ganglioside accumulated in 4 variants of GM2 gangliosidosis, whereas labelled GM3 ganglioside accumulated in sialidosis, galactosialidoses and sphingolipid activator protein 1 (SAP-1, saposin B) and prosaposin (saposin A, B, C and D) deficient lipidoses. The reduced degradation of GM3 ganglioside in the SAP-1 and prosaposin deficiencies was attributed to the deficient function of SAP-1. The prosaposin deficient cells also showed a reduced re-utilization of radioactive metabolites from GM1 ganglioside (i.e. sphingosine and fatty acid) for phospholipid biosynthesis compared with fibroblasts from the SAP-1 deficient patient or normal controls. This anomaly was ascribed to the previously shown defect in ceramide degradation in prosaposin deficiency.

MeSH terms

  • Child, Preschool
  • Chromatography, Thin Layer
  • Fibroblasts / metabolism
  • G(M1) Ganglioside / metabolism*
  • G(M2) Ganglioside / metabolism
  • G(M3) Ganglioside / metabolism
  • Gangliosidosis, GM1 / metabolism
  • Glycoproteins / deficiency
  • Glycoproteins / metabolism
  • Humans
  • Infant
  • Lysosomal Storage Diseases / metabolism*
  • Neuraminidase / deficiency
  • Protein Precursors / deficiency
  • Protein Precursors / metabolism
  • Saposins
  • Skin / cytology
  • Skin / metabolism
  • Sphingolipid Activator Proteins
  • Sphingolipidoses / metabolism

Substances

  • G(M3) Ganglioside
  • Glycoproteins
  • PSAP protein, human
  • Protein Precursors
  • Saposins
  • Sphingolipid Activator Proteins
  • G(M2) Ganglioside
  • G(M1) Ganglioside
  • Neuraminidase