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Feinstein scientists identify abnormal disease pathway in dystonia
Date:4/12/2011

thway connecting directly to the motor cortex," said Dr. Eidelberg. "This second area of pathway disruption abrogated the effects of the first lesion."

Normally, the cerebellum (a region that controls movement) puts the breaks on the motor cortex by potentiating inhibition at the cortical level. It is likely that mutation carriers have a developmental problem in the flow of neural signals along this circuit such that the brain cannot inhibit an unwanted movement. With the second pathway lesion, Dr. Eidelberg explained, "the flow is shut off and the abnormal activity stops."

The Feinstein team has since looked at laboratory models to try to figure out why this second lesion is protective. Since the identification of the DYT1 gene, scientists have been trying to create a genetic model of the movement disorder. But when they placed the same mutation in an experimental mouse model, there was a major problem: no symptoms. Dr. Ulug's team used a novel magnetic resonance approach to understand why the mutant animals were clinically normal. They found that the mutant mice displayed the same two pathway abnormalities that were found in the human gene carriers. However, the animals had dual lesions across the board, resembling the 70 percent of carriers who fail to display clinical manifestations of the disease. The study was published in the Proceedings of the National Academy of Sciences.

Knowing this critical piece of the puzzle may enable scientists to create true laboratory models of the disease with symptoms that mimic what is seen in patients. These findings may help to design treatments to make the symptomatic carriers of dystonia genes more like their unaffected counterparts with the same genetic mutation.


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Contact: Jamie Talan
jtalan@nshs.edu
516-562-1232
North Shore-Long Island Jewish (LIJ) Health System
Source:Eurekalert

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