A model for niemann-pick type C disease in the nematode Caenorhabditis elegans

Curr Biol. 2000 May 4;10(9):527-30. doi: 10.1016/s0960-9822(00)00468-1.

Abstract

Niemann-Pick type C (NP-C) disease is a progressive neurodegenerative disorder characterized by the inappropriate accumulation of unesterified cholesterol in lysosomes [1]. NP-C patients show various defects including hepatosplenomegaly, ataxia, dystonia and dementia. Most cases of NP-C are associated with inactivating mutations of the NPC1 gene [2], which encodes a protein implicated in the retrograde transport of sterols and other cargo from lysosomes [3]. Furthermore, localization of the NPC1 protein to lysosomal/endosomal compartments is essential for proper transport [4]. To create a model of NP-C disease in a simple, genetically tractable organism, we generated deletion mutations in two Caenorhabditis elegans homologs of the human NPC1 gene, designated npc-1 and npc-2. Animals mutant for npc-1 developed slowly, laid eggs prematurely, and were hypersensitive to cholesterol deprivation. Furthermore, npc-1; npc-2 double-mutant animals inappropriately formed dauer larvae under favorable growth conditions. These phenotypes in C. elegans provide a model system for both genetic and chemical suppressor screening that could identify promising drug targets and leads for NP-C disease.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Caenorhabditis elegans / embryology
  • Caenorhabditis elegans / metabolism
  • Caenorhabditis elegans / physiology
  • Carrier Proteins*
  • Cholesterol / metabolism
  • Disease Models, Animal
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Membrane Glycoproteins*
  • Molecular Sequence Data
  • Mutagenesis
  • Niemann-Pick C1 Protein
  • Niemann-Pick Diseases*
  • Oviposition / physiology
  • Proteins / genetics
  • Proteins / physiology*

Substances

  • Carrier Proteins
  • Intracellular Signaling Peptides and Proteins
  • Membrane Glycoproteins
  • NPC1 protein, human
  • Niemann-Pick C1 Protein
  • Proteins
  • Cholesterol