Grant: Project Grant

Our laboratory has been at the leading edge in the identification of extra-neuronal defects in spinal muscular atrophy (SMA). We have shown that SMN depletion leads to defects in fatty acid metabolism. This novel finding raises the intriguing question of whether non-alcoholic fatty liver phenotype is an important facet of SMA disease pathogenesis. Here we will perform a more in-depth investigation to examine fatty acid metabolism in SMA. The proposed experiments will address the triggering events in liver steatosis in SMA and whether the liver is an important player in the overall picture of SMA disease etiology. The research will have important implications in the care and disease management of patients with SMA.