Disease model: LAMP-2 enlightens Danon disease

Trends Mol Med. 2001 Jan;7(1):37-9. doi: 10.1016/s1471-4914(00)01868-2.

Abstract

Danon disease ('lysosomal glycogen storage disease with normal acid maltase') is characterized by a cardiomyopathy, myopathy and variable mental retardation. Mutations in the coding sequence of the lysosomal-associated membrane protein 2 (LAMP-2) were shown to cause a LAMP-2 deficiency in patients with Danon disease. LAMP-2 deficient mice manifest a similar vacuolar cardioskeletal myopathy. In addition to the patient reports LAMP-2 deficiency in mice causes pancreatic, hepatocytic, endothelial and leucocyte vacuolation. LAMP-2 deficient mice represent a valuable animal model of Danon disease. They will further be used to study the exact role of LAMP-2 in autophagy and to analyse the consequences of an impaired autophagic pathway in various tissues.

Publication types

  • Comparative Study
  • Review

MeSH terms

  • Animals
  • Antigens, CD / genetics*
  • Antigens, CD / physiology
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / pathology
  • DNA Mutational Analysis
  • Disease Models, Animal*
  • Female
  • Glycogen Storage Disease / genetics*
  • Glycogen Storage Disease / pathology
  • Humans
  • Intellectual Disability / genetics
  • Intracellular Membranes / metabolism
  • Lysosomal Membrane Proteins
  • Lysosomal Storage Diseases / genetics*
  • Lysosomal Storage Diseases / pathology
  • Lysosomal-Associated Membrane Protein 2
  • Male
  • Membrane Glycoproteins / deficiency
  • Membrane Glycoproteins / genetics*
  • Membrane Glycoproteins / physiology
  • Mice
  • Mice, Knockout
  • Muscle, Skeletal / pathology
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Myocardium / pathology
  • Pancreas / pathology
  • Phagocytosis / genetics
  • Species Specificity
  • X Chromosome / genetics*

Substances

  • Antigens, CD
  • Lysosomal-Associated Membrane Protein 2
  • Lysosomal Membrane Proteins
  • Membrane Glycoproteins