Therapeutic effects of IGF2 in a mouse model of Angelman syndrome and Preclinical evaluation of IGF2 in Angelman syndrome.

Primary Investigator: Cristina Alberini

Summary: The lack of UBE3A function in neurons of those with AS leads to the accumulation of synaptic proteins that ultimately result in dysregulation of synapse formation and function, also known as a synapopathy. This group discovered that insulin-like growth factor 2 (IGF-2) has an important role in learning and memory, and can act as a potent memory enhancer through the regulation of synaptic mechanisms. This drug is given subcutaneously and was shown to rescue numerous phenotypes in the mouse model of AS in a pilot study. This study expanded upon this work to evaluate robust phenotypic rescue in the AS mouse and explored effect at different ages