Snippets of RNA may reverse symptoms of Angelman syndrome
4 December 2014
Small pieces of RNA restore the expression of a key gene missing in Angelman syndrome and offer the promise of a highly specific cure, researchers reported Monday in Nature1.
Injecting these RNA snippets into the brains of mice missing one copy of this gene, called UBE3A, reverses their memory problems.
“If you would have asked me 15 years ago when we were first finding this gene if I thought that a cure ever would have been a possibility, I would have said it was a slim chance,” says lead researcher Arthur Beaudet, professor of molecular and human genetics at Baylor College of Medicine in Houston, Texas. “Now there’s room to be much more optimistic than that.”
The copy of UBE3A inherited from the father is typically always silent. Because of this, mutations that hobble the maternal copy result in Angelman syndrome, a disorder characterized by developmental delay, seizures, poor muscle coordination and autism symptoms. Researchers have investigated restoring the intact paternal copy’s expression as one way to treat the syndrome.
A 2011 study found that topotecan, a cancer drug, restores UBE3A expression in mice lacking the maternal copy of the gene2. But the drug also affects the expression of other genes, and may lead to side effects common in chemotherapy, such as hair loss, nausea and anemia.
The new method instead uses RNA sequences that are specific to UBE3A.
“What’s wonderful about this is that it provides the opportunity to have really great specificity,” says Benjamin Philpot, professor of neuroscience at the University of North Carolina at Chapel Hill, who led the topotecan study but is not involved in the new work.
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