Disease model: LAMP-2 enlightens Danon disease.

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.

• Authors: P Saftig, Y Tanaka, R Lüllmann-Rauch, K von Figura
• Journal: Trends in molecular medicine (Trends Mol Med) Vol. 7 Issue 1 Pg. 37-9 (Jan 2001) ISSN: 1471-4914 [Print] England
• PMID: 11427988 (Publication Type: Comparative Study, Journal Article, Review)

Chemical References

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

Topics

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