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

NYU Offers Financial Aid to Undocumented Students

The Wall Street Journal reported that NYU will begin offering scholarship aid to undocumented students for the school year beginning next September.

NYU Adopts Lean LaunchPad Program to Teach Entrepreneurship

Startup guru Steve Blank, in a Huffington Post blog, described how NYU adopted the Lean LaunchPad model to teach entrepreneurship to students and faculty at NYU.

Biology Professor Jane Carlton Examines Wastewater for the City’s Microbiome

The New York Times’ Science Times column “Well” profiled Biology Professor Jane Carlton and her research project to sequence microbiome of New York City by examining wastewater samples.

Steinhardt Professors Use a Play as Therapy

The New York Times wrote about a play written by Steinhardt Music Professor Robert Landy about the relationship between Adjunct Professor Cecilia Dintino, a clinical psychologist in the Drama Therapy Program, and a patient, former Broadway actress Jill Powell.

NYU Public Health Experts Urge Strengthening Local Health Systems to Combat Ebola

Dean Cheryl Healton of the Global Institute of Public Health and Public Health Professor Christopher Dickey wrote an op-ed in the Huffington Post saying international health agencies need to strengthen their presence in countries at the local level to prevent future ebola outbreaks.

NYU Footer