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Strategy to Treat Angelman Syndrome Tested

By Shana R. Spindler, Ph.D. on January 4, 2012


Overview: In a recent issue of Nature, researchers report a therapeutic strategy to treat Angelman syndrome, a developmental disorder related to autism.


Background: Angelman syndrome is caused by a defective version of the UBE3A protein, which helps tag other proteins for elimination from the cell. Individuals get one paternal and one maternal copy of the UBE3A gene, but through a process known as imprinting, only the maternal copy is expressed. Normally, even if the maternal copy of the gene is nonfunctional, the paternal UBE3A remains silent.


What's new: Researchers recently identified a drug, called Topotecan, that allows cells to express the paternal copy of UBE3A by inhibiting part of the cellular machinery that winds and unwinds DNA. After injecting very small amounts of Topotecan into the brains of Angelman syndrome mouse models, the researchers found that neurons from various areas of the brain began making the UBE3A protein from the paternal copy of the gene.


Why it's important: Topotecan is a promising therapeutic strategy for treating Angelman syndrome, suggest the authors. However, the researchers also stress the importance of additional studies to investigate the off-target affects of the drug.


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