Autism- A Matter Of The Brain’s Connections

Mental retardation in autism is known to arise from a plethora of rare de novo mutations of key protein components in the synapse- the basic neuronal connection in the brain’s hardware. In a recent study published in Nature Genetics, Berkel and colleagues identified yet another de novo mutation associated with autism, which essentially consist of a series of loss of function mutations of the protein Shank2- a member of the postsynaptic scaffolding proteins located in the receiving end of synaptic connections known as the post-synaptic terminal (Berkel et al., 2010). read more

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