Research has answered some questions about UBE3A’s role in seizures
ASF-funded research conducted at Dr. Ben Philpot’s lab at the University of North Carolina-Chapel Hill has answered some questions about UBE3A’s role in seizures in individuals with Angelman syndrome, and also illustrated additional work that needs to be done.
Published in the prestigious research journal, Neuron, the research sought to answer the question: how are seizures affected by where—not just when—UBE3A is expressed in the brain?
The research team, led by Matt Judson, PhD in Philpot’s lab, found that UBE3A loss specifically from GABAergic neurons can cause seizures in an Angelman syndrome mouse model. It was previously unclear which cell classes were relevant, and there were reasons to believe that UBE3A loss in both excitatory and inhibitory neurons was important. The research showed that loss of UBE3A from inhibitory neurons, but not excitatory neurons, is enough to cause seizures. This illustrates that both timing AND location of UBE3A restoration are important in reducing seizures in AS. This is relevant to gene therapy and other treatment approaches. More work needs to be done to determine different cell types and pathways to further understand the link between UBE3A and seizures in Angelman syndrome.
Access the full issue (requires paid subscription).