New York University Skip to Content Skip to Search Skip to Navigation Skip to Sub Navigation

Neuroscientists Find Promise in Addressing Fragile X Afflictions

January 4, 2013

NYU neuroscientists have devised a method that has reduced several afflictions associated with Fragile X syndrome (FXS) in laboratory mice. Their findings, which were reported in the journal Neuron, offer new possibilities for addressing FXS, the leading inherited cause of autism and intellectual disability.

Those afflicted with FXS do not possess the protein FMRP, which is a suppressor of protein synthesis. Absent this suppressor, protein synthesis is exaggerated, producing a range of mental and physical disorders.

Previous research has indirectly targeted protein synthesis by seeking to temper, but not block, this process. The NYU researchers, by contrast, sought a more fundamental intervention—removing the enzyme S6K1, which has previously been shown to regulate protein synthesis in FXS mice. By addressing this phenomenon at the molecular level, they hoped to diminish many of the conditions associated with FXS.

To determine the impact of this intervention, the researchers compared the behaviors of these FXS mice with normal mice. Their results showed that protein synthesis in the FXS mice lacking S6K1 became similar to that of normal mice. Through a series of experiments and other measurements (e.g., navigating a maze, interacting with other mice), they found both physical and behavioral improvements in the FXS mice.

However, the researchers did not find uniform improvements in the tested FXS mice—they still engaged in excessive repetitive behaviors (i.e., repeatedly burying marbles in an experiment), a common trait among those afflicted with FXS. Nonetheless, the research team said the findings showed remarkable promise.

“We think these results set the stage for a viable pharmacological approach to target S6K1, with the aim of diminishing or even reversing the afflictions associated with Fragile X syndrome,” says Eric Klann, professor in NYU’s Center for Neural Science and the study’s senior author.

The study’s co-authors were Aditi Bhattacharya, Hanoch Kaphzan, Amanda Alvarez-Dieppa, and Jaclyn Murphy of NYU’s Center for Neural Science, and Philippe Pierre of Université de la Méditerranée in Marseille, France.

The research was supported by grants from the National Institutes of Health and the FRAXA Research Foundation.


Type: Article

Neuroscientists Find Promise in Addressing Fragile X Afflictions

Search News



NYU In the News

Entrepreneurship Lab Opens at NYU

Crain’s New York Business covered the opening of the Mark and Debra Leslie Entrepreneurial eLab, which will be the headquarters for NYU’s Entrepreneurial Institute and all of the University’s programs aimed at promoting innovation and startups.

A Globalizer for N.Y.U. in Abu Dhabi

The New York Times profiled Bill Bragin who will become the first executive artistic director of NYU Abu Dhabi’s new performing arts center.

Think Tank to Ponder a Future for Ballet

The New York Times profiled Jennifer Homans, the director of NYU’s new Center for Ballet and the Arts.

The Brilliant Ten: Jonathan Viventi Builds Devices That Decode Thoughts

Popular Science named Assistant Bioengineering Professor Jonathan Viventi as one of its “brilliant ten” for his research into brain implants that could one day halt epileptic episodes:

Living and Leaving the Dream: Adrian Cardenas’ Journey from the Major Leagues to College

The New York Times ran a feature on Adrian Cardenas, a former major league baseball player who is now studying philosophy and creating writing at NYU.

NYU Footer