Neuroscientists find promise in addressing Fragile X afflictions

September 19, 2012 in Medical research

Neuroscientists at New York University have devised a method that has reduced several afflictions associated with Fragile X syndrome (FXS) in laboratory mice. Their findings, which are 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 . 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, p70 ribosomal S6 kinase 1, or 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 those normal mice while also observing the of these same FXS mice.

Their results showed that protein synthesis in the FXS mice lacking S6K1 became similar to that of normal mice. Moreover, 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:

  • The FXS mice missing the S6K1 enzyme showed greater ability than other FXS mice to adjust their behaviors when facing conditions that were similar, but not identical, to previous experiences. This attribute, , is typically diminished is those afflicted with FXS. In this experiment, the FXS mice missing the S6K1 enzyme were more successful than other FXS mice to navigate a maze that was similar to a maze they had previously mastered.
  • The FXS mice missing the S6K1 enzyme showed enhanced social behaviors, which are measured through a commonly used "social novelty test." Under this method, mice interact with each other multiple times to gauge familiarity. In this experiment, the FXS mice missing the S6K1 enzyme showed greater familiarity with mice they previously encountered than did other FXS mice. Humans afflicted with FXS have diminished abilities for social interaction.
  • The FXS mice missing the S6K1 enzyme showed a correction in three physical traits often associated with this condition: immature dendritic spine morphology, which indicates abnormal connections between neurons, excessive weight gain, and macro-orchidism, or enlarged testicles.
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 ," said Eric Klann, a professor in NYU's Center for Neural Science and the study's senior author.

Journal reference: Neuron search and more info website

Provided by New York University search and more info website

3.5 /5 (2 votes)  

Rank 3.5 /5 (2 votes)
Relevant PhysicsForums posts

More news stories

Study reveals new mechanism for estrogen suppression of liver lipid synthesis

By discovering the new mechanism by which estrogen suppresses lipid synthesis in the liver, UC Irvine endocrinologists have revealed a potential new approach toward treating certain liver diseases.

Medical research created May 23, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

MRI-based measurement helps predict vascular disease in the brain

Aortic arch pulse wave velocity, a measure of arterial stiffness, is a strong independent predictor of disease of the vessels that supply blood to the brain, according to a new study published in the June issue the journal ...

Medical research created May 23, 2013 | popularity not rated yet | comments 0

Antibiotics: A new understanding of sulfonamide nervous system side effects

Since the discovery of Prontosil in 1932, sulfonamide antibiotics have been used to combat a wide spectrum of bacterial infections, from acne to chlamydia and pneumonia. However, their side effects can include serious neurological ...

Medical research created May 23, 2013 | popularity not rated yet | comments 0 | with audio podcast

Scientists discover molecule triggers sensation of itch

Scientists at the National Institutes of Health report they have discovered in mouse studies that a small molecule released in the spinal cord triggers a process that is later experienced in the brain as ...

Medical research created May 23, 2013 | popularity 5 / 5 (3) | comments 0 | with audio podcast

Discarded immune cells induce the relocation of stem cells

Spanish researchers have discovered that the daily clearance of neutrophils from the body stimulates the release of hematopoietic stem cells from the bone marrow into the bloodstream, according to a report published today ...

Medical research created May 23, 2013 | popularity 5 / 5 (2) | comments 0


Engineered cytomegalovirus protects monkeys from HIV equivalent

(Medical Xpress)—A new study by researchers in the US has shown that an ancient virus can be modified to help in the fight against the simian immunodeficiency virus SIV, which is the equivalent in monkeys ...

Researchers identify first drug targets in childhood genetic tumor disorder

Two mutations central to the development of infantile myofibromatosis (IM)—a disorder characterized by multiple tumors involving the skin, bone, and soft tissue—may provide new therapeutic targets, according to researchers ...

Hormone levels may provide key to understanding psychological disorders in women

Women at a particular stage in their monthly menstrual cycle may be more vulnerable to some of the psychological side-effects associated with stressful experiences, according to a study from UCL.

Going live: Immune cell activation in multiple sclerosis

Biological processes are generally based on events at the molecular and cellular level. To understand what happens in the course of infections, diseases or normal bodily functions, scientists would need to ...

Help at hand for people with schizophrenia

How can healthy people who hear voices help schizophrenics? Finding the answer for this is at the centre of research conducted at the University of Bergen.

Driving and hands-free talking lead to spike in errors, study shows

Talking on a hands-free device while behind the wheel can lead to a sharp increase in errors that could imperil other drivers on the road, according to new research from the University of Alberta.