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 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.
Saftig
P
P
Zentrum Biochemie und Molekulare Zellbiologie, Abt. Biochemie II, Universität Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany. psaftig@gwdg.de
Tanaka
Y
Y
Lüllmann-Rauch
R
R
von Figura
K
K
D000818:Animals; D015703:Antigens, CD / Q000235:genetics* / Q000502:physiology; D009202:Cardiomyopathies / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004195:Disease Models, Animal; D005260:Female; D006008:Glycogen Storage Disease / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007425:Intracellular Membranes / Q000378:metabolism; D016464:Lysosomal Storage Diseases / Q000235:genetics* / Q000473:pathology; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D051379:Mice; D018345:Mice, Knockout; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D009206:Myocardium / Q000473:pathology; D010179:Pancreas / Q000473:pathology; D010587:Phagocytosis / Q000235:genetics; D013045:Species Specificity; D014960:X Chromosome / Q000235:genetics*
D015703:Antigens, CD; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins; D008562:Membrane Glycoproteins