080210xf's Blog

L'X fragile sera vaincu | Fragile X will be conquered

Children’s National Researchers Unlock a Key Cause of Fragile X Syndrome

HealthCanal.com |

Findings May Have Implications for Autism Spectrum Disorders

Washington, DC — Researchers with the Center for Neuroscience Research at Children’s National Medical Center have identified a brain defect responsible for many of the social and emotional problems associated with Fragile X Syndrome (FXS). Specifically, the investigators uncovered that neuronal inhibitory neurotransmission, a major form of communication in the brain, is significantly diminished in the animal model of FXS. FXS is the most common inherited cause of mental retardation and the leading known genetic cause of autism as one-third of people with FXS also have autism spectrum disorders.

In addition to this discovery, in slice cultures the team also demonstrated the effectiveness of a drug that may correct the defect, which may inform the development of therapies for FXS and other autism spectrum disorders. The next step is to collaborate with clinical researchers to test the drug more broadly for safety and efficacy. According to Children’s National researchers and other studies, the national and international neuroscience research community is exploring how best to take that next step.

The discoveries resulted from the three-year collaboration of two laboratories at Children’s National and a Kennedy Krieger-Johns Hopkins laboratory. One laboratory, led by Joshua Corbin, PhD, co-principal investigator, works to understand the basic mechanisms of development of the amygdale—a specific part of the brain intimately involved in behavioral deficits in autism spectrum disorders. The other laboratory, led by Molly Huntsman, PhD, co-principal investigator, studies how neurotransmitters that are responsible for inhibitory and excitatory behavior work for proper communication in the brain.


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