Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin

J Biol Chem. 2003 Aug 8;278(32):29496-501. doi: 10.1074/jbc.M302964200. Epub 2003 May 19.

Abstract

Gangliosides are found at high levels in neuronal tissues where they play a variety of important functions. In the gangliosidoses, gangliosides accumulate because of defective activity of the lysosomal proteins responsible for their degradation, usually resulting in a rapidly progressive neurodegenerative disease. However, the molecular mechanism(s) leading from ganglioside accumulation to neurodegeneration is not known. We now examine the effect of ganglioside GM2 accumulation in a mouse model of Sandhoff disease (one of the GM2 gangliosidoses), the Hexb-/- mouse. Microsomes from Hexb-/- mouse brain showed a significant reduction in the rate of Ca2+-uptake via the sarco/endoplasmic reticulum Ca2+-ATPase (SERCA), which was prevented by feeding Hexb-/- mice with N-butyldeoxynojirimycin (NB-DNJ), an inhibitor of glycolipid synthesis that reduces GM2 storage. Changes in SERCA activity were not due to transcriptional regulation but rather because of a decrease in Vmax. Moreover, exogenously added GM2 had a similar effect on SERCA activity. The functional significance of these findings was established by the enhanced sensitivity of neurons cultured from embryonic Hexb-/- mice to cell death induced by thapsigargin, a specific SERCA inhibitor, and by the enhanced sensitivity of Hexb-/- microsomes to calcium-induced calcium release. This study suggests a mechanistic link among GM2 accumulation, reduced SERCA activity, and neuronal cell death, which may be of significance for delineating the neuropathophysiology of Sandhoff disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 1-Deoxynojirimycin / analogs & derivatives
  • 1-Deoxynojirimycin / pharmacology*
  • Adenosine Triphosphate / pharmacology
  • Animals
  • Blotting, Western
  • Brain / metabolism
  • Calcium / metabolism
  • Calcium / pharmacokinetics*
  • Calcium / pharmacology
  • Calcium-Transporting ATPases / metabolism*
  • Cell Death
  • Disease Models, Animal
  • Dose-Response Relationship, Drug
  • Electrophoresis, Polyacrylamide Gel
  • Endoplasmic Reticulum / metabolism*
  • Enzyme Inhibitors / pharmacology*
  • G(M2) Ganglioside / metabolism
  • Gangliosides / metabolism
  • Genotype
  • Glycolipids / metabolism
  • Hippocampus / cytology
  • Kinetics
  • Lipid Metabolism
  • Mice
  • Mice, Transgenic
  • Microsomes / metabolism
  • Neurons / cytology
  • Neurons / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sandhoff Disease / metabolism*
  • Sarcoplasmic Reticulum / metabolism*
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases
  • Spectrophotometry
  • Thapsigargin / pharmacology
  • Time Factors

Substances

  • Enzyme Inhibitors
  • Gangliosides
  • Glycolipids
  • 1-Deoxynojirimycin
  • G(M2) Ganglioside
  • Thapsigargin
  • Adenosine Triphosphate
  • miglustat
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases
  • Calcium-Transporting ATPases
  • Calcium