GM1 Gangliosidosis

GM1-gangliosidosis is an autosomal recessive lysosomal storage disease caused by mutations in the GLB1 gene. Mutations in the GLB1 gene result in a deficiency of lysosomal acid beta-galactosidase (βgal) enzyme, an enzyme needed to breakdown GM1-ganglioside. The accumulation of GM1-ganglioside leads to degeneration in the neurons. Symptoms of GM1 in human patients include seizures, developmental regression, and enlargement of the liver and spleen among other symptoms. AAV gene therapy has been shown to be successful in mouse models of GM1, and an AAV gene therapy is currently in human clinical trials.

Magnetic Resonance Imaging (MRI) to Track Enzyme Expression in AAV Treated Mice

Our lab is working to build upon a previous study done by Taghian et al., 2021 in which GM1-gangliosidosis mice were treated with an AAV gene therapy to restore βgal production. Enzyme activity was subsequently viewed with MRI technology using a new βgal-activated contrast agent to track the efficacy of the gene therapy.