Modified UBE3A gene for gene therapy for Angelman syndrome

摘要

【Task】 Provided are novel vectors, compositions, and methods of treating neurodegenerative diseases characterized by defective UBE3A. SOLUTION: The UBE3A gene, which encodes the E6-AP of ubiquitin ligase, has been shown to be involved in Angelman syndrome (AS). A feature of this gene is neuron-specific maternal imprinting. Most AS cases have mutations or deletions in the maternal UBE3A gene, as well as uniparental disomy or abnormal methylation of the maternal gene. A UBE3A protein construct was created with additional sequences that allow cell secretion and uptake by adjacent neurons. This UBE3A vector can be used for gene therapy, which supplies neurons with E6-AP functional proteins to save them from disease pathology. [Selection diagram] Fig. 1