Researchers Are On the Trail to Find the Cause of Dystonia

Who would have thought that a classic novel came about because a student accidentally skipped a page in his test booklet for a final exam essay?

The person charged with grading said essay came across the blank page and decided to write a simple sentence: “In a hole in the ground there lived a hobbit.” The grader was, of course, J.R.R. Tolkien and that sentence inspired the children’s novel, The Hobbit.

It is safe to say that inspiration can come from the strangest of sources. A strange source of inspiration concerning dystonia happened to Dr. Nicole Calakos of Duke University.

Dystonia is actually a number of movement disorders that may manifest themselves in many ways. They can show up at nearly any age, but most often in older adults. Scientists were not entirely sure what caused the disorder, but they knew that it was probably related to genes. It frequently presents in families.

Dr. Calakos’s inspiration came when she noticed that a patient who did not have a family history displayed a similar genetic attribute to a familial variety of the disorder that usually presents in children.

The mutation was not identical, but it was very similar. It caused a certain protein to be located near the nucleus of the cell rather than in the endoplasmic reticulum, the manufacturing part of the cell. This got her thinking.

She got some help from a research analyst from Duke University, Zachary Caffall. Together, they set out to compare the cellular make-up of people who display symptoms of dystonia and people who do not. They had some help from other agencies who had been collecting similar information from people with dystonia for years.

Many of these data points showed that the offending protein was consistently close to the nucleus. They were able to create a model, with a little time and effort, that allowed them to isolate which of the 23,000 genes in a human that causes the misplaced protein.

Armed with this new knowledge, there is a possibility that new treatment options could be developed.

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