Adrian Isaacs, PhD
University College London
Lipid desaturase overexpression to ameliorate neurodegeneration in C9orf72 repeat mice
A mutation in a gene called C9orf72 is the most common genetic cause of ALS. In our initial work in fruit flies and in human nerve cells, we found that the C9orf72 mutation changes the levels of specific molecules called lipids and that restoring proper lipid levels can prevent nerve cell loss. We now propose to test whether lipid restoration can also prevent nerve cell loss in a C9orf72 mouse model, a critical step in determining whether lipids are a viable therapeutic target for ALS.