Disease model: LAMP-2 enlightens Danon disease
P Saftig, K Von Figura, Y Tanaka… - Trends in molecular …, 2001 - cell.com
P Saftig, K Von Figura, Y Tanaka, R Lüllmann-Rauch
Trends in molecular medicine, 2001•cell.comDanon 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 …
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 …
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.
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