Why do some diseases affect only specific organs, leaving others invulnerable?
Known as DYT1 dystonia, the disease causes involuntary twisting and repetitive movements or abnormal postures. It’s caused by a mutation in the DYT1 gene, which contains instructions for making the torsinA protein, causing this protein become defective. The defective protein causes disruption in an area of the brain that controls movement, leading to the abnormal movements. “We want to understand why dystonia affects only brain cells in order to treat children,” says William Dauer, M.D., Elinor Levine associate professor in the department of neurology at the University of Michigan. Previously, Dauer and his colleagues used genetic engineering to create the same mutation in mouse DNA that causes the disease in humans. These mice had a neural specific defect similar to the brain-specific abnormality in human patients with dystonia. The researchers used this mouse model to determine why neurons were affected, while the rest of the body was unaffected. They found that compared to nonneuron
