06 Aug

ASF-funded research at UNC published in Cell

Angelman Syndrome Foundation-Funded Research at University of North Carolina-Chapel Hill Leads to Breakthrough in AS- and Autism-related research

Research from the lab of Dr. Mark Zylka, a leading AS researcher and associate professor of cell biology and physiology at the University of North Carolina-Chapel Hill, has made a few exciting discoveries related to Angelman syndrome. The research, which has implications for AS and shed light on many genetic intricacies not previously known about autism, was published today in Cell, a top neuroscience publication—a tremendous accomplishment for the research team.

The team’s research has identified a pathway that regulates the activity of the UBE3A enzyme. If a specific phosphate is attached to the UBE3A enzyme, the enzyme is turned off. If that phosphate is removed, the UBE3A enzyme is turned on. The research published in Cell discusses the implications for Dup15q syndrome, where the UBE3A enzyme needs to be turned off; and for AS, where research needs to both produce more of the enzyme activity, by turning on the paternal copy of the UBE3A gene, as well as turn on the UBE3A enzyme.

“What the exciting work by Zylka and colleagues indicates is that UBE3A levels are (almost certainly) very tightly regulated during development, and treatments designed at restoring UBE3A expression must be undertaken with great care, due to the potential dangers of overexpression and excessive UBE3A activity,” said Lynne Bird, M.D., Professor of Clinical Pediatrics at the University of California-San Diego.

You can click here to read UNC’s press release, which further discusses the research’s implications for autism and Dup15q syndrome.

You can click here to access the full paper in Cell.

The Angelman Syndrome Foundation funded this research in its 2013 research grant cycle. The National Institutes of Health, the Foundation for Angelman Syndrome Therapeutics, and Autism Speaks also funded this research.

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