Disease model: LAMP-2 enlightens Danon disease

Paul Saftig, Kurt Von Figura, Yshitaka Tanaka, Renate Lüllmann-Rauch

Research output: Contribution to journalReview articlepeer-review

77 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)37-39
Number of pages3
JournalTrends in Molecular Medicine
Volume7
Issue number1
DOIs
Publication statusPublished - Jan 1 2001

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Molecular Biology

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