Abstract:
BACKGROUND:Danon disease is caused by a primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). MATERIALS AND METHODS:Our study describes a 19-year-old man with isolated hypertrophic cardiomyopathy, in whom we performed DNA analysis and compared results of microscopic analysis of skeletal and cardiac muscles. RESULTS:Sequencing of the LAMP-2 gene revealed a novel point mutation c.137G > A in exon 2, leading to premature stop codon. Ultrastructural analysis of cardiac and skeletal muscles revealed the presence of unusual autophagic vacuoles in both. Although some vacuoles in skeletal muscle reacted strongly with dystrophin, β-sarcoglycan, and laminin, those in cardiomyocytes showed no immunoreactivity. CONCLUSION:Our immunohistochemical and ultrastructural findings reinforce the claim that in Danon disease the pathomechanism of chaperone-mediated autophagy in cardiomyocytes differs from that in skeletal muscle.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Fidzianska A,Madej-Pilarczyk A,Walczak E,Kuch Mdoi
10.1055/s-0033-1336017subject
Has Abstractpub_date
2013-10-01 00:00:00pages
276-80issue
5eissn
0174-304Xissn
1439-1899journal_volume
44pub_type
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