080210xf's Blog

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

NCBS breakthrough: soothing the frayed nerves of Fragile X

Geoff Hyde, NCBS News

A team of neuroscientists, led by Prof. Sumantra Chattarji at the National Centre for Biological Sciences, Bangalore has identified  previously unrecognised synaptic defects in an area of the brain that is involved in the debilitating emotional symptoms of Fragile X Syndrome (FXS), the leading genetic cause of autism and mental retardation. The study is of potential therapeutic significance because it also shows that even a relatively brief pharmacological treatment is capable of correcting some of these defects in mice that were genetically engineered to model FXS. The work, done together with collaborators at New York University, will be reported in the online early edition of the Proceedings of the National Academy of Sciences the week of June 7-11.

Individuals with FXS, which is caused by a mutation in a gene on the X chromosome, suffer from a wide range of problems, such as learning disabilities, attention deficit, seizures, anxiety and mood instability, probably involving several regions of the brain. Currently there is no effective treatment for FXS and other types of autism, but helpful clues about potential drug therapy were provided by previous work that found defects in neurotransmission in the hippocampus, a region important for learning and long-term memory. These defects involve abnormal chemical signaling across the synapse – the junction between neighbouring nerves. Prof. Chattarji’s group focuses on the amygdala, a small, almond-shaped area long known as the brain’s emotional hub.

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