Nature : The Autism Enigma
La revue Nature consacre un dossier spécial à l’autisme dans son numéro du 3 novembre 2011 : The Autism Enigma
Les articles sont consultables sur le site de la revue Nature.
1. Special issue on neuroscience : The autism enigma. Nature ;2011 (Nov 3) ;479(7371):21.
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2. Auerbach BD, Osterweil EK, Bear MF. Mutations causing syndromic autism define an axis of synaptic pathophysiology. Nature ;2011 (Dec 1) ;480(7375):63-68.
Tuberous sclerosis complex and fragile X syndrome are genetic diseases characterized by intellectual disability and autism. Because both syndromes are caused by mutations in genes that regulate protein synthesis in neurons, it has been hypothesized that excessive protein synthesis is one core pathophysiological mechanism of intellectual disability and autism. Using electrophysiological and biochemical assays of neuronal protein synthesis in the hippocampus of Tsc2(+/-) and Fmr1(-/y) mice, here we show that synaptic dysfunction caused by these mutations actually falls at opposite ends of a physiological spectrum. Synaptic, biochemical and cognitive defects in these mutants are corrected by treatments that modulate metabotropic glutamate receptor 5 in opposite directions, and deficits in the mutants disappear when the mice are bred to carry both mutations. Thus, normal synaptic plasticity and cognition occur within an optimal range of metabotropic glutamate-receptor-mediated protein synthesis, and deviations in either direction can lead to shared behavioural impairments.
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3. Buchen L. Scientists and autism : When geeks meet. Nature ;2011 (Nov 3) ;479(7371):25-27.
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4. Mottron L. Changing perceptions : The power of autism. Nature ;2011 (Nov 3) ;479(7371):33-35.
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5. Wadman M. Autism’s fight for facts : A voice for science. Nature ;2011 (Nov 3) ;479(7371):28-31.
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6. Weintraub K. The prevalence puzzle : Autism counts. Nature ;2011 (Nov 3) ;479(7371):22-24.
