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.
University of North Carolina Health CareJul 8 2024 Though there isn't a cure for the condition, new research at the UNC School of Medicine is setting the stage for one.
But these results, which were published in Nature Communications, mark a major milestone in the field, according to Mark Zylka, W.R. Kenan Jr. Distinguished Professor of Cell Biology and Physiology at the UNC School of Medicine and Director of the UNC Neuroscience Center. No other small molecule compound has yet to show such promise for Angelman, he added.
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. Additionally, researchers observed that -PHA533533 has excellent bioavailability in the developing brain, meaning it travels to its target with ease and sticks around. This is notable in that previous genetic therapies for Angelman syndrome have had more limited bioavailability.
Syndrome Allele Brain Cell Cell Biology Children Compound Epilepsy Gene Gene Therapy Genetic Genetic Disorder Medicine Molecule Muscle Neurons Neuroscience Physiology Protein Research Small Molecules Speech
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Researchers identify molecule as potential treatment for Angelman syndromeAngelman 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't a cure for the condition, new research at the UNC School of Medicine is setting the stage for one.
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