Disease model: LAMP-2 enlightens Danon disease

Danon disease ('lysosomal glycogen storage disease with normal acid maltase ') is characterized by a cardiomyopathy, myopathy and variable mental retar dation. Mutations in the coding sequence of the lysosomal-associated membra ne protein 2 (LAMP-2) were shown to cause a LAMP-2 deficiency in patients w ith Danon disease. LAMP-2 deficient mice manifest a similar vacuolar cardio skeletal 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-P in autophagy an d to analyse the consequences of an impaired autophagic pathway in various tissues.