New Modified Mouse Model Helps to Understand Dystonia

Researchers have been struggling for years to better understand dystomina - a movement disorder - in the hopes that unveiling its causes could lead to a better understanding of various neurological disorders. Now, the creation of a new mouse model may help researchers achieve just that.

Although one of the more cruel and unpleasant aspects of the research world, mouse modeling has long proved an important step in research. Modifying entire generations of lab mice to exhibit one disorder or another, without the risk of unaccounted-for genetic interference, allows scientists to analyze the symptoms and causes of an illness accurately.

Mouse models for genetically influenced disorders, such as autism spectrum disorder (ASD), have allowed researchers in the past to determine underlying causes, as no set of symptoms is driven by genetics alone.

Now, according to a study published in the Journal of Clinical Investigation, researchers have finally managed to breed mice that express the consequences of a DYT1 gene mutation almost exactly as it would in humans suffering from the dystonia disorder.

They achieved this, not after tweaking the gene in mice, but after closely studying its mutated form in humans. The researchers focused on the fact that the DYT1 gene mutation causes brain cells to produce a less active version of a protein called torsinA (TOR1A).

Employing advanced modification tactics during the early brain development of mice, the researchers impaired the function of torsenA directly - soon finding that it results in neurodegredation, specifically in parts of the brain responsible for movement control. The resulting mice had repetitive and involuntary muscle spasms and contractions - the hallmark characteristics of human dystonia.

According to lead researcher Willian Dauer, the resulting study of this model should allow researchers to better understand how specific parts of the brain are more vulnerable than others to genetic mutation.

"Every disease is telling us something about biology - one just has to listen carefully," he said in a statement. "In this case, we're showing that in dystonia, the lack of this particular protein during a critical window of time is causing cell death."

According to the study's authors, the mouse model they created could not only be used to study dystonia, but neurodegenerative disorders like Parkingson's and Huntington's disease as well.

The study was published in the Journal of Clinical Investigation on June 17.