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