Clec16a is Critical for Autolysosome Function and Purkinje Cell Survival

Sci Rep. 2016 Mar 18:6:23326. doi: 10.1038/srep23326.

Abstract

CLEC16A is in a locus genetically linked to autoimmune diseases including multiple sclerosis, but the function of this gene in the nervous system is unknown. Here we show that two mouse strains carrying independent Clec16a mutations developed neurodegenerative disease characterized by motor impairments and loss of Purkinje cells. Neurons from Clec16a-mutant mice exhibited increased expression of the autophagy substrate p62, accumulation of abnormal intra-axonal membranous structures bearing the autophagy protein LC3, and abnormal Golgi morphology. Multiple aspects of endocytosis, lysosome and Golgi function were normal in Clec16a-deficient murine embryonic fibroblasts and HeLa cells. However, these cells displayed abnormal bulk autophagy despite unimpaired autophagosome formation. Cultured Clec16a-deficient cells exhibited a striking accumulation of LC3 and LAMP-1 positive autolysosomes containing undigested cytoplasmic contents. Therefore Clec16a, an autophagy protein that is critical for autolysosome function and clearance, is required for Purkinje cell survival.

MeSH terms

  • Animals
  • Autophagy
  • Cell Survival
  • Cells, Cultured
  • Golgi Apparatus / pathology
  • HeLa Cells
  • Humans
  • Lectins, C-Type / genetics*
  • Lectins, C-Type / metabolism
  • Lysosomes / physiology*
  • Mice
  • Monosaccharide Transport Proteins / genetics*
  • Monosaccharide Transport Proteins / metabolism
  • Motor Neuron Disease / genetics
  • Motor Neuron Disease / pathology*
  • Mutation*
  • Purkinje Cells / cytology*

Substances

  • CLEC16A protein, human
  • CLEC16A protein, mouse
  • Lectins, C-Type
  • Monosaccharide Transport Proteins