Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency
2012
Abstract
The article characterizes the impacts of a novel frame shift mutation in LAMP2 gene on protein sorting and stability and correlates these findings with Danon disease phenotype in the studied family. The benefits of use of peripheral white blood cells in the diagnostic protocol of Danon disease in female heterozygotes by flow cytometry are unambiguously demostrated.
In addition, it is presented that LAMP2 deficit in CD8+ T lymphocytes does not alter lytic granules exocytosis.