Disruption of synaptic function in neurodevelopmental disorders

The development of the human brain is an extremely complex process requiring the concerted action of hundreds of genes to correctly wire and maintain the connections between individual neurons. Genetic or environmental factors that disrupt these processes can result in devastating neurodevelopmental disorders such as autism that manifest as abnormalities in social interaction and behavior. Many of the central symptoms of these disorders are linked to disruption of synaptic signaling and maturation of excitatory synapses in cortical neurons.

Fragile X is a monogenic disorder that is the most common form of inherited human mental retardation and also the single most common known cause of autism. The mouse model of this syndrome recapitulates many of the same traits as the human disease, including a disruption to the connections between neurons in the sensory regions of the cortex. To fully understand the nature of these disruptions we are recording activity from individual neurons in the somatosensory region of Fragile X mice. We plan to examine the precise nature of the deficits in synaptic communication and plasticity that are likely to underlie the impairments in cognitive processes and could be a major cause of mental retardation and autism associated with Fragile X.

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