Occurrence of an anomalous endocytic compartment in fibroblasts from Sandhoff disease patients

Mol Cell Biochem. 2010 Feb;335(1-2):273-82. doi: 10.1007/s11010-009-0277-0. Epub 2009 Oct 2.

Abstract

Sandhoff disease (SD) is a lysosomal storage disorder due to mutations in the gene encoding for the beta-subunit of beta-hexosaminidase, that result in beta-hexosaminidase A (alphabeta) and beta-hexosaminidase B (betabeta) deficiency. This leads to the storage of GM2 ganglioside in endosomes and lysosomes, which ends in a progressive neurodegeneration. Currently, very little is known about the biochemical pathways leading from GM2 ganglioside accumulation to pathogenesis. Defects in transport and sorting by the endosomal-lysosomal system have been described for several lysosomal storage disorders. Here, we have investigated the endosomal-lysosomal compartment in fibroblasts from SD patients and observed that both late endosomes and lysosomes, but not early endosomes, have a higher density in comparison with normal fibroblasts. Moreover, Sandhoff fibroblasts have an intracellular distribution of terminal endocytic organelles that differs from the characteristic perinuclear punctate pattern observed in normal fibroblasts and endocytic vesicles also appear larger. These findings reveal the occurrence of an alteration in the terminal endocytic organelles of Sandhoff fibroblasts, suggesting an involvement of this compartment in the disruption of cell metabolic and signalling pathways and in the onset of the pathological state.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cells, Cultured
  • Endocytosis
  • Endosomes / metabolism
  • Endosomes / ultrastructure*
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Fibroblasts / ultrastructure*
  • Fluorescent Antibody Technique
  • Humans
  • Hydrogen-Ion Concentration
  • Lysosomes / metabolism
  • Lysosomes / ultrastructure
  • Sandhoff Disease / pathology*
  • beta-N-Acetylhexosaminidases / genetics
  • beta-N-Acetylhexosaminidases / metabolism

Substances

  • beta-N-Acetylhexosaminidases