The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo

J Biol Chem. 1999 Apr 2;274(14):9627-35. doi: 10.1074/jbc.274.14.9627.

Abstract

Niemann-Pick C disease (NP-C) is a neurovisceral lysosomal storage disorder. A variety of studies have highlighted defective sterol trafficking from lysosomes in NP-C cells. However, the heterogeneous nature of additional accumulating metabolites suggests that the cellular lesion may involve a more generalized block in retrograde lysosomal trafficking. Immunocytochemical studies in fibroblasts reveal that the NPC1 gene product resides in a novel set of lysosome-associated membrane protein-2 (LAMP2)(+)/mannose 6-phosphate receptor(-) vesicles that can be distinguished from cholesterol-enriched LAMP2(+) lysosomes. Drugs that block sterol transport out of lysosomes also redistribute NPC1 to cholesterol-laden lysosomes. Sterol relocation from lysosomes in cultured human fibroblasts can be blocked at 21 degrees C, consistent with vesicle-mediated transfer. These findings suggest that NPC1(+) vesicles may transiently interact with lysosomes to facilitate sterol relocation. Independent of defective sterol trafficking, NP-C fibroblasts are also deficient in vesicle-mediated clearance of endocytosed [14C]sucrose. Compartmental modeling of the observed [14C]sucrose clearance data targets the trafficking defect caused by mutations in NPC1 to an endocytic compartment proximal to lysosomes. Low density lipoprotein uptake by normal cells retards retrograde transport of [14C]sucrose through this same kinetic compartment, further suggesting that it may contain the sterol-sensing NPC1 protein. We conclude that a distinctive organelle containing NPC1 mediates retrograde lysosomal transport of endocytosed cargo that is not restricted to sterol.

MeSH terms

  • Amino Acid Sequence
  • Antibodies
  • Antigens, CD / metabolism
  • Biological Transport
  • Carrier Proteins*
  • Cell Compartmentation
  • Cholesterol / metabolism
  • Endocytosis
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Lysosomal Membrane Proteins
  • Lysosomal-Associated Membrane Protein 2
  • Lysosomes / metabolism*
  • Membrane Glycoproteins / metabolism
  • Molecular Sequence Data
  • Mutagenesis, Site-Directed
  • Niemann-Pick C1 Protein
  • Niemann-Pick Diseases / genetics
  • Niemann-Pick Diseases / metabolism*
  • Proteins / genetics
  • Proteins / metabolism*
  • Receptor, IGF Type 2 / metabolism
  • Structure-Activity Relationship
  • Sucrose / metabolism

Substances

  • Antibodies
  • Antigens, CD
  • Carrier Proteins
  • Intracellular Signaling Peptides and Proteins
  • LAMP2 protein, human
  • Lysosomal-Associated Membrane Protein 2
  • Lysosomal Membrane Proteins
  • Membrane Glycoproteins
  • NPC1 protein, human
  • Niemann-Pick C1 Protein
  • Proteins
  • Receptor, IGF Type 2
  • Sucrose
  • Cholesterol