Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1

Hum Mol Genet. 2012 Jun 15;21(12):2651-62. doi: 10.1093/hmg/dds090. Epub 2012 Mar 21.

Abstract

An unresolved issue about many neurodegenerative diseases is why neurons are particularly sensitive to defects in ubiquitous cellular processes. One example is Niemann Pick type C1, caused by defects in cholesterol trafficking in all cells, but where neurons are preferentially damaged. Understanding this selective failure is limited by the difficulty in obtaining live human neurons from affected patients. To solve this problem, we generated neurons with decreased function of NPC1 from human embryonic stem cells and used them to test the hypothesis that defective cholesterol handling leads to enhanced pathological phenotypes in neurons. We found that human NPC1 neurons have strong spontaneous activation of autophagy, and, contrary to previous reports in patient fibroblasts, a block of autophagic progression leading to defective mitochondrial clearance. Mitochondrial fragmentation is an exceptionally severe phenotype in NPC1 neurons compared with fibroblasts, causing abnormal accumulation of mitochondrial proteins. Contrary to expectation, these abnormal phenotypes were rescued by treatment with the autophagy inhibitor 3-methyladenine and by treatment with the potential therapeutic cyclodextrin, which mobilizes cholesterol from the lysosomal compartment. Our findings suggest that neurons are especially sensitive to lysosomal cholesterol accumulation because of autophagy disruption and accumulation of fragmented mitochondria, thus defining a new route to effective drug development for NPC1 disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenine / analogs & derivatives
  • Adenine / pharmacology
  • Autophagy*
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism
  • Cell Differentiation
  • Cells, Cultured
  • Cholesterol / metabolism*
  • Cyclodextrins / pharmacology
  • Embryonic Stem Cells / metabolism
  • Fibroblasts / drug effects
  • Fibroblasts / metabolism
  • Green Fluorescent Proteins / genetics
  • Green Fluorescent Proteins / metabolism
  • Humans
  • Immunoblotting
  • Intracellular Signaling Peptides and Proteins
  • Membrane Glycoproteins / genetics
  • Membrane Glycoproteins / metabolism
  • Microscopy, Confocal
  • Mitochondria / drug effects
  • Mitochondria / metabolism
  • Mitochondrial Proteins / metabolism
  • Neural Stem Cells / metabolism
  • Neurons / drug effects
  • Neurons / metabolism*
  • Neurons / pathology
  • Niemann-Pick C1 Protein
  • Niemann-Pick Diseases / classification
  • Niemann-Pick Diseases / genetics
  • Niemann-Pick Diseases / metabolism*
  • RNA Interference
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Carrier Proteins
  • Cyclodextrins
  • Intracellular Signaling Peptides and Proteins
  • Membrane Glycoproteins
  • Mitochondrial Proteins
  • NPC1 protein, human
  • Niemann-Pick C1 Protein
  • Green Fluorescent Proteins
  • 3-methyladenine
  • Cholesterol
  • Adenine