The Little Gene Mutation with a Big Impact on Dystonia

Science has a Little Engine That Could story that you may want to check out.  It makes for a pretty dense read, but once you wade through the data, the bottom line is huge:

Researchers at Duke University think they’ve pinpointed a genetic mutation common to the entire family of movement disorders collectively called dystonia.

And the really great news is that knowing the cause opens new therapeutic doors.

A Quick Review

Dystonia causes involuntary and painful movements that twist and turn different parts of the body, sometimes to a disabling degree. People affected by it often find themselves unable to work or carry out the most basic day-to-day functions like getting dressing or brushing their teeth. While elderly patients are more likely to be diagnosed with the disorder, it can affect anyone at any age. Within that broad bucket, dystonia disorders range from the fairly common non-familial cases—where there is no known cause—and the ultra-rare inherited cases. In fact, the latest discovery was sparked by an observation one of the Duke researchers made while treating one of her patients.

Hurrah for Great Doctors!

In 2009, Nicole Calakos, M.D., Ph.D., an associate professor of neurology at Duke, noticed that a patient with non-familial dystonia also had a variation of the same rare mutation in the DYT1 gene responsible for a severe inherited dystonia seen primarily in children. Curious to see if there was a connection between the gene’s presence and the patient’s symptoms, Calakos and a team of researchers set out to study the impact of the mutation in the two types of dystonia. What they found in both cases was that the mutation caused the DYT1 protein to be “misplaced” near the cell’s nucleus, versus in the cell’s endoplasmic reticulum where proteins are manufactured. This observation inspired the researchers to think about the mechanism of dystonia—and of how to treat it—in a different way.

https://upload.wikimedia.org/wikipedia/commons/thumb/b/bb/Cell_nucleus.jpg/1024px-Cell_nucleus.jpg dystonia
Remember learning in biology how important a cell’s nucleus is? It holds almost magical power in the body. {Image by Nicolle Rager Fuller, National Science Foundation [Public domain], via Wikimedia Commons]
With more refinement and study, the team was able to identify new molecular pathways for treating different types of dystonia. And with the cooperation of the U.S. National Institutes of Health, they are now looking for different chemicals that can realign the misplaced DYT1 protein and help relieve dystonia symptoms. To date the team has looked at some 40,000 potential drug compounds, with more in the works. Along with the assistance of the NIH, the Duke team has received invaluable financial support from Tyler’s Hope Foundation for a Dystonia Cure, a foundation created by parents of children diagnosed with dystonia.

While there’s still a lot of work to be done, we can’t overstate what a huge difference this seemingly tiny finding may have on the future of dystonia treatment. As we look to the future of genetic research (and the funding of genetic research), it’s a good reminder that every step forward, no matter how small, is a step in the right direction.


Ronald Ledsen

Ronald Ledsen

After emigrating from his native Sweden, Ronald spent a stint in the Merchant Marines while trying to work out what he wanted to do with his life. He discovered a love of writing while helping a friend write anonymous Harry Potter fan-fiction online; he discovered meaning to his writing when he began journaling after an anxiety disorder diagnosis. Ronald is most relaxed when spending quiet time with his wife, two sons, and hyperactive cat.

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