Niemann Pick C1 mistargeting disrupts lysosomal cholesterol homeostasis contributing to neurodegeneration in a Batten disease model

Sci Adv. 2025 May 9;11(19):eadr5703. doi: 10.1126/sciadv.adr5703. Epub 2025 May 7.

Abstract

Neurodegeneration is a devastating manifestation in most lysosomal storage disorders (LSDs). Loss-of-function mutations in CLN1, encoding palmitoyl-protein thioesterase-1 (PPT1), cause CLN1 disease, a devastating neurodegenerative LSD that has no curative treatment. Numerous proteins in the brain require dynamic S-palmitoylation (palmitoylation-depalmitoylation) for trafficking to their destination. Although PPT1 depalmitoylates S-palmitoylated proteins and its deficiency causes CLN1 disease, the underlying pathogenic mechanism has remained elusive. We report that Niemann-Pick C1 (NPC1), a polytopic membrane protein mediating lysosomal cholesterol egress, requires dynamic S-palmitoylation for trafficking to the lysosome. In Cln1-/- mice, Ppt1 deficiency misroutes NPC1-dysregulating lysosomal cholesterol homeostasis. Along with this defect, increased oxysterol-binding protein (OSBP) promotes cholesterol-mediated activation of mechanistic target of rapamycin C1 (mTORC1), which inhibits autophagy contributing to neurodegeneration. Pharmacological inhibition of OSBP suppresses mTORC1 activation, rescues autophagy, and ameliorates neuropathology in Cln1-/- mice. Our findings reveal a previously unrecognized role of CLN1/PPT1 in lysosomal cholesterol homeostasis and suggest that suppression of mTORC1 activation may be beneficial for CLN1 disease.

MeSH terms

  • Animals
  • Autophagy
  • Cholesterol* / metabolism
  • Disease Models, Animal
  • Homeostasis*
  • Humans
  • Lysosomes* / metabolism
  • Mechanistic Target of Rapamycin Complex 1 / metabolism
  • Mice
  • Mice, Knockout
  • Neuronal Ceroid-Lipofuscinoses* / genetics
  • Neuronal Ceroid-Lipofuscinoses* / metabolism
  • Neuronal Ceroid-Lipofuscinoses* / pathology
  • Niemann-Pick C1 Protein* / genetics
  • Niemann-Pick C1 Protein* / metabolism
  • Niemann-Pick Disease, Type C / metabolism
  • Thiolester Hydrolases / genetics
  • Thiolester Hydrolases / metabolism

Substances

  • Cholesterol
  • Niemann-Pick C1 Protein
  • Mechanistic Target of Rapamycin Complex 1
  • Thiolester Hydrolases
  • Npc1 protein, mouse
  • palmitoyl-protein thioesterase