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Research :: Objectives
DSRTF's research objective is to fund science that enhances the lives of people with Down syndrome through the improvement of cognition. Cognition involves the processing of information, perception, attention, judgment, and understanding and remembering the environment around us.
We know that Down syndrome produces abnormalities in the structure and functioning of the brain that affect cognition. Medical research seeks to understand these brain abnormalities, identify what specifically causes them, and determine how the abnormalities can be treated.
The focus of current research centers on this hypothesis: Each cognitive deficit in Down syndrome is due to the presence of an extra copy of a specific gene(s), and treatments directed at reducing the expression of a specific gene(s) or the actions of its protein products will prevent or reverse the deficit. Testing this hypothesis requires answering these questions:
1. What cognitive abnormalities are most important in Down syndrome?
2. What neuronal circuits are implicated in each abnormality?
3. What gene(s) are responsible?
4. How does the presence of an extra copy of a particular gene cause the abnormality - i.e. what molecular and cellular mechanism is responsible?
5. What treatments can be devised to prevent or reverse the abnormality?
6. Does administering the treatment improve cognition in people with Down syndrome?
The hippocampus is a brain region essential for learning and memory. It is one of the major areas studied by scientists to determine which neuronal circuits are affected in cognition in Down syndrome. Specifically, scientists are focusing on examining the structure and function of synapses, the points of information transfer between brain cells. By examining synapses in the hippocampus, scientists hope to find out more about what is different in Down syndrome brains.
Using mouse models, researchers have learned that:
1. synapses are not made correctly in a Down syndrome brain - i.e. their structure and formation is very different;
2. synapses don't work correctly in a Down syndrome brain - i.e. there are dramatic changes in synaptic function and strength;
3. synapses fail to be maintained in a Down syndrome brain - i.e. cholinergic neurons degenerate in Down syndrome, and this degeneration is due to the failure to send neurotrophic signals.
What causes synapses to fail in a Down syndrome brain? Researchers are aggressively examining this question and hope to find answers quite soon. The results of their studies have already given hope that it will be possible to discover treatments that prevent degeneration of neurons in people with Down syndrome and thereby substantially improve learning and memory.
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