Acid Ceramidase Deficiency Leads To Multiple Skin Abnormalities In A Mouse Model Of Farber Disease

Lysosomal storage disorders are a group of about 50 rare metabolic diseases that result from defects in lysosomal function. The majority is recessively inherited and caused by mutations in genes encoding lysosomal proteins as the basis for its pathobiology. The lysosome plays a pivotal role in a cell's ability to recycle and degrade unwanted material. One of its functions relates to regulating iron levels throughout the body. Iron is a double-edged sword: It is absolutely required for an organism's survival, but high levels of iron quickly lead to cell death. In addition, recent results have put the lysosome on the map of pathways leading to common neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease. It is plausible that the mechanisms through which the lysosome acts in these diseases also involve iron and this would have significant implications in our understanding of the molecular etiology of these disorders.