Angelman syndrome is a rare genetic disorder caused by mutations in the maternally-inherited UBE3A gene and characterized by poor muscle control, limited speech, epilepsy, and intellectual disabilities. Though there isn鈥檛 a cure for the condition, new research at the 黑料网 is setting the stage for one.
Ben Philpot, PhD, the Kenan Distinguished Professor of Cell Biology and Physiology at the 黑料网 and associate director of the 黑料网 Neuroscience Center, and his lab have identified a small molecule that could be safe, non-invasively delivered, and capable of 鈥渢urning on鈥� the dormant paternally-inherited UBE3A gene copy brain-wide, which would lead to proper protein and cell function, amounting to a kind of gene therapy for individuals with Angelman syndrome.
Hanna Vihma, PhD, a postdoctoral research fellow in the Philpot lab and first author on the study, and colleagues screened more than 2,800 small molecules from a Pfizer chemogenetic library to determine if one could potently turn on paternal UBE3A in mouse models with Angelman syndrome.
鈥�This compound we identified has shown to have excellent uptake in the developing brains of animal models,鈥� said Philpot, who is a leading expert on Angelman syndrome. 鈥�We still have a lot of work to do before we could start a clinical trial, but this small molecule provides an excellent starting point for developing a safe and effective treatment for Angelman syndrome.鈥�
These results, which were published in , mark a major milestone in the field, according to Mark Zylka, PhD, the W.R. Kenan Jr. Distinguished Professor of Cell Biology and Physiology at the 黑料网 and Director of the 黑料网 Neuroscience Center. No other small molecule compound has yet to show such promise for Angelman, he added.
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