Accumulation of cholesterol and GM2 ganglioside in cells cultured in the presence of progesterone: an implication for the basic defect in Niemann-Pick disease type C

Brain Dev. 1998 Jan;20(1):50-2. doi: 10.1016/s0387-7604(97)00099-5.

Abstract

Cultured fibroblasts from patients with Niemann-Pick disease type C (NP-C) are characterized by lysosomal accumulation of unesterified cholesterol and a defect in intracellular trafficking of cholesterol. We have found the accumulation of GM2 ganglioside in NP-C fibroblasts [Yano T, Taniguchi M, Akaboshi S, Vanier MT, Tai T, Sakuraba H, et al. Proc Japan Acad 1996;72B:214-219]. In this communication we show that several inhibitors known to inhibit intracellular cholesterol transport, progesterone, imipramine and KN-62, elicit accumulation of not only unesterified cholesterol but also GM2 ganglioside. This finding suggests that intracellular transport of cholesterol may be coupled with that of GM2 ganglioside. The accumulation of free cholesterol and GM2 ganglioside may be a clue for understanding the basic defect of NP-C. Recently NPC1 gene is found by the positional cloning. The mechanism of accumulating of GM2 ganglioside should be further investigated by studying of the functions of NPC1 gene.

MeSH terms

  • 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine / analogs & derivatives
  • 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine / pharmacology
  • Animals
  • Biological Transport / drug effects
  • Cells, Cultured
  • Cholesterol / metabolism*
  • Fibroblasts / metabolism
  • Fluorescent Antibody Technique
  • G(M2) Ganglioside / metabolism*
  • Humans
  • Imipramine / pharmacology
  • Niemann-Pick Diseases / classification*
  • Niemann-Pick Diseases / metabolism*
  • Niemann-Pick Diseases / pathology
  • Progesterone / pharmacology*
  • Rats

Substances

  • G(M2) Ganglioside
  • Progesterone
  • KN 62
  • 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine
  • Cholesterol
  • Imipramine