This team is examining the role of particular class of brain cells (inhibitory interneurons) that dampen excessive activity in the “emotional center of the brain” (the amydala). This inhibition is deficient in Fragile X, and so they are looking for ways to remedy this.
This is particularly interesting to parents of children who are overly anxious and emotional. They are working with Dr. Walter Kaufmann, a clinician at Kennedy Krieger Institute in Maryland.
The proper functioning of neuronal circuits in the mature brain is dependent on maintenance of the normal
balance between excitatory and inhibitory neuronal transmission. In Fragile X Syndrome, there is an overexcitation
within neuronal circuits, which manifests as alterations in brain function.
Work in our laboratory is directed toward understanding and correcting deficiencies in inhibitory, GABAergic
transmission in Fragile X Syndrome. Toward this goal, we are focusing our studies on amygdala synaptic
function and dysfunction in the Fmr1-/- knockout mouse model of Fragile X Syndrome. The amygdala is a
highly relevant and little examined brain region in relation to Fragile X Syndrome pathogenesis. It performs
a number of distinct functions, most prominently in the integration and processing of information with emotional
salience, especially negative emotions such as fear. The amygdala is also involved in the regulation of attention
and eye gaze, as well as modulation of anxiety state and social avoidance responses, most of which are abnormal
in Fragile X Syndrome. Using a combination of mouse genetic and pharmacological approaches, this project is
designed to rescue the abnormalities in inhibitory synaptic dysfunction in the amygdala in the Fmr1-/- knockout mouse.
more FRAXA research reports
