Sphingolipid Biology of Neurodegeneration

National Institute Of Diabetes And Digestive And Kidney Diseases

Investigators

Linked publications, trials & patents

Abstract

We are studying the events that occur due to the inability to degrade lipid substrate in the sphingolipidoses. In a mouse model of Sandhoff disease, we have identified signaling pathways (mTor and Trem2) that are altered in the CNS. We are using genetic approaches in the disease model mice by cross breeding to introduce mutations affecting the signaling pathways to determine their importance. The cross-bred mice are being assessed by biochemical and behavioral techniques. The results may help identify pathways that are targets for therapy in these diseases.