A Jackson Laboratory research team has discovered how two proteins work together to help organize brain circuitry, a finding researchers say could lead to treatments for Down syndrome, Tourette syndrome, autism, schizophrenia and other disorders.
The team, led by Associate Professor Robert Burgess, found that the interactivity of the proteins, called DSCAM and DSCAML1, keep neurons from clumping together, a condition researchers say underlies a number of disorders, including Tourette's and Down syndrome -- in fact, DSCAM stands for "Down syndrome cell adhesion molecule."
In research published in the journal Neuron, Burgess and his colleagues show that in the absence of DSCAM, neurons in the retina do form synapses, the chemical junctions between neurons, but they clump together "like overcooked spaghetti." By studying a mouse bred to lack DSCAML1, the team discovered that the protein prevents such clumping.
Burgess says DSCAML1 maps to a region of the human genome that is associated with Tourette's syndrome. He says too much or too little DSCAM or DSCAML1 could turn out to have a role in many other disorders, such as autism and schizophrenia.
"What these disorders share is that there's nothing really grossly wrong with the brain -- all the major parts are there and are more or less connected the way they should be, with some minor abnormalities," Burgess says in a statement announcing the discovery. "Now we can start to investigate specific individual cell types in the brain and ask whether they're properly spaced, as a first step to understanding syndromes associated with those cell types."
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