Neuroscientists Find Protein Linked to Cognitive Deficits in Angelman Syndrome

A team of NYU neuroscientists has identified a protein in laboratory mice linked to impairments similar to those that characterize Angelman syndrome (AS)—a human condition associated with symptoms that include autism, intellectual disability, and motor abnormalities.

Neuroscientists Find Protein Linked to Cognitive Deficits in Angelman Syndrome

The findings appeared in the journal Cell Reports.

“By isolating a protein that contributes to cognitive deficits in Angelman syndrome, these findings mark a step forward in not only addressing AS, but perhaps other developmental disorders as well,” says Eric Klann, a professor in NYU’s Center for Neural Science and one of the study’s co-authors.

The study’s co-authors also included Hanoch Kaphzan, Akila Ramaraj, and Emanuela Santini of NYU’s Center for Neural Science as well as researchers from the Baylor College of Medicine and the University of Cincinnati.

Previous research has shown that AS model mice display brain dysfunctions that match neurological abnormalities observed in humans, including cognitive deficits such as long-term memory. A previous study by Klann and his colleagues pointed to a potential cause for the condition—overexpression of a subunit of a protein termed Na/K-ATPase in AS model mice.
In the Cell Reports study, the authors hypothesized that if they could decrease expression of this subunit, they could improve cognitive function of AS model mice.

To do this, they ran different populations of mice through cognitive and memory tests—including a water maze to examine spatial memory and a fear conditioning paradigm to examine associative memory.

In both experiments, the AS model mice with diminished expression of the Na/K-ATPase subunit showed recall abilities on par with normal mice. By contrast, other AS model mice exhibited diminished recall abilities, pointing the role this protein may play in AS-like impairments.
The research was supported by grants from the National Institutes of Health and by the Angelman Syndrome Foundation.

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