Danon disease is an X-linked dominant inherited disorder, which is caused by deficiency of the LAMP2, resulting in glycogen deposition in myocardial, skeletal, and brain cells.
LAMP2 shines a light on cardiomyopathy in an athlete.
Here, we observed an increased expression of LAMP2 mRNA in [ASC.sub.EMS] undergoing adipogenic differentiation.
Moreover, using immunofluorescence staining, LAMP2 localization was investigated under a confocal microscope (b).
Furthermore, more recent studies show that alcohol feeding and LPS treatment decrease the expression of LAMP2
in the pancreas of animals (Fortunato et al.
Danon disease is a rare genetic muscular disorder with X-linked dominant inheritance due to mutation of lysosomeassociated membrane protein 2 (LAMP2
) [4, 10].
Abbreviations for mRNAs: AMPK: adenosine 5'-monophosphate- (AMP-) activated protein kinase; ATG: AuTophaGy; UVRAG: UV radiation resistance associated gene; VSP: venom serine protease; LAMP2
: lysosomal associated membrane protein 2.
found that the elevated expression of LAMP1 and LAMP2
predicts high metastatic viability in colon cancer cell lines .
In turn LAMP2
enhanced formation of autophagosomes and autolysosomes.
Genetic screening of genes causing hereditary skeletal and cardiomyopathies was performed using targeted next-generation sequencing, and the screened gene panel included SGCD , TCAP , TRIM32 , TTN , FKTN , MYOT , LMNA , CAV3 , EMD , FHL1 , LAMA2 , ITGA7 , SEPN1 , ACTA1 , DES , CRYAB , LDB3 , BAG3 , STA , DMD , MYH7 , and LAMP2
For lysosomes and mitochondria detection, coverslips were incubated overnight with lysosome-associated membrane protein-2a (LAMP2
, Novus Biologicals NBP1-95696) and with mitochondria-specific heat-shock protein-70 (mtHSP70, ABR Bioreagents MA3-28) antibodies, respectively, followed by fluorescent secondary antibodies (Alexa Fluor 488 and 594, Jackson ImmunoResearch).