GBA2 – Therapeutic uses for orphan metabolic diseases

Glycosphingolipids represent a particularly complex class

of glycolipids. The high structural diversity is generated by an equally elaborate network of metabolic enzymes. Loss of degradative enzymes causes glycolipid storage diseases, such as Gaucher`s disease, which results from a functional impairment or loss of the glycosylceramidase GBA1. The second glycolipid hydrolase, GBA2, is also involved in this storage disease. GBA2 does not show sequence identity to GBA1 and is expressed in different tissues and subcellular compartments. Substitution of GBA2 can be used to treat glycolipid storage diseases and to support or replace the function of GBA1 in such diseases especially in the severe forms of Gaucher`s disease where GBA1 is not utilized. Further, the invention allows drug screening based on GBA2 knock-out mouse models and genetic expression systems. The knock-out mice are currently characterized concerning physiology as well as behaviour.

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