Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease

Autophagy. 2010 Jul;6(5):648-9. doi: 10.4161/auto.6.5.12047. Epub 2010 Jul 1.

Abstract

Gaucher disease is an inherited autosomal recessive disease caused by mutations of acid β-glucosidase, a lysosomal hydrolase specific for degradation of glucosylceramide and glucosylsphingosine in the glycosphingolipid metabolic pathway. Clinically, Gaucher disease is classified into three types: type 1 is a visceral disease, whereas types 2 and 3 are acute and chronic neuronopathic variants, respectively. In types 2 and 3, the CNS pathology displays neuronal inclusions and neuron death. The underlying mechanism(s) by which the glycosphingolipid storage leads to this pathology is not fully understood. A mouse model whose phenotype mimicked that of the human neuronopathic variants was generated in our lab. In the brain of this model, abnormal autophagosomes and lysosomes implicate autophagy in the neuronal degeneration of Gaucher disease.

MeSH terms

  • Animals
  • Brain / pathology
  • Brain / ultrastructure
  • Disease Models, Animal
  • Gaucher Disease / pathology*
  • Humans
  • Lysosomes / pathology*
  • Mice
  • Nerve Degeneration / pathology
  • Neurons / pathology
  • Phagosomes / pathology*
  • Phenotype