Ferroptosis-centered Disease Response Information

General Information of the Disease (ID: DIS00063)
Name
Danon disease
ICD
ICD-11: 5C51
Full List of Target(s) of This Ferroptosis-centered Disease
Phospholipid hydroperoxide glutathione peroxidase (GPX4)
 Target Info 
In total 1 item(s) under this target
Experiment 1 Reporting the Ferroptosis-centered Disease Response by This Target [1]
Target for Ferroptosis Marker/Suppressor
Responsed Disease Danon disease [ICD-11: 5C51]
Responsed Regulator Lysosome-associated membrane glycoprotein 2 (LAMP2) Suppressor
 Regulator Info 
Pathway Response Fatty acid metabolism hsa01212
Ferroptosis hsa04216
Autophagy hsa04140
Cell Process Cell ferroptosis
Cell autophagy
In Vitro Model ARPE-19 cells Normal Homo sapiens CVCL_0145
HfRPE (Human retinal pigment epithelial cells)
Response regulation Mutations of LAMP2 cause the classic triad of myopathy, cardiomyopathy and encephalopathy of Danon disease (DD). LAMP2-KD reduced the concentration of cytosolic cysteine, resulting in low glutathione (GSH), inferior antioxidant capability and mitochondrial lipid peroxidation. ROS induced RPE cell death through ferroptosis. Inhibition of glutathione peroxidase 4 (GPx4) increased lethality in LAMP2-KD cells compared to controls.
References
Ref 1 Lysosome-associated membrane protein-2 deficiency increases the risk of reactive oxygen species-induced ferroptosis in retinal pigment epithelial cells. Biochem Biophys Res Commun. 2020 Jan 8;521(2):414-419. doi: 10.1016/j.bbrc.2019.10.138. Epub 2019 Oct 28.