The gene responsible for Angelman syndrome (AS), UBE3A, is unique in that it is one of few genes in the CNS that undergoes imprinting, a genetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner. Angelman syndrome arises from a variety of abnormalities on the chromosome 15, with each resulting in the functional loss of the maternal UBE3A gene.
Our research suggests the cognitive disruption observed in AS may result from disruption in CaMKII signaling. Importantly, αCaMKII is not produced until after birth, suggesting that postnatal therapeutic intervention may be possible. The NLML is exploring several approaches to rescue the learning and memory deficits in AS mouse model and consults with Clinician Scientists on the design of clinical trials.
Current NLML AS Research Projects
Introduction to Angelman Syndrome
UBE3A Gene Function
Model Systems of Angelman Syndrome
Molecular Changes in the AS Mouse Model