080210xf's Blog

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

Reducing glutamate signaling pays off in fragile X


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Nature.com, Gary J Bassell & Christina Gross


Basic science on disease mechanisms is driven by hypotheses that persist long enough to be frequently disproved or complicated by tests of principle in animal models. Rarely, but all the more compellingly, a scientific model derived from basic research turns out to be appropriate for actual medical therapy in people. An exciting example is the report by Dolen et al.1 in a recent issue of Neuron.

This study is a major step toward the ultimate goal of treating fragile X syndrome (FXS), an inherited form of mental retardation and the predominant monogenetic cause of autism. The study is also a genetic test of the ‘mGluR theory’ of FXS, which postulates that an important consequence of FXS is excessive signaling through group 1 metabotropic glutamate receptors (mGluRs), a specific subfamily of seven-transmembrane receptors involved in different forms of synaptic plasticity. The theory holds that the disease might be treated by mGluR antagonists. Dolen et al.1 now show that genetic reduction of mGluR signaling can reverse several typical FXS symptoms in mice and provide the first comprehensive evidence that the mGluR theory of FXS holds true.


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