The disease DYT1 dystonia, a childhood disorder is known to causes involuntary twisting and repetitive movements or abnormal postures. It is assumed to be a result of a mutation in the DYT1 gene. The University of Michigan has been seemingly successful in shedding light on the brain’s ability in commanding movement in dystonia by identifying the neural tissue consisting of imbalanced levels of proteins.
It is assumed that the mutation informs the torsinA protein and makes it defective. The defective protein in return disrupts the area of the brain that commands movement and thus causes abnormal movements. Initially by genetic engineering the researchers conducted an experiment on mice. They aimed to create the mutation in the DNA of the mice that have been known to mice that cause the disease in humans
All the mice had a particular neural defect which seems to be identical to brain-specific abnormality in human dystonia patients. This mouse-model enabled them to understand the reason neurons are affected while the rest of the body remains unaffected. They ascertained that neurons appear to have very low levels of torsinB, which is very much identical to torsinA.
William Dauer, M.D., Elinor Levine associate professor in the department of neurology at the University of Michigan shared, “This could explain why one organ may be selectively affected in other diseases. The cells in that organ might lack proteins that help them to withstand certain genetic mutations or environmental insults.”
The scientists further explained that the DYT1 gene mutation may be successful in causing a defect in torsinA, torsinB and other cells, but not in case of neuronal cells. Therefore the investigators tried to reduce the quantity of torsinB in skin cells with the DYT1 mutation. As a result the mice developed abnormalities alike the ones discovered in neurons.
Further research will be conducted to ascertain the specific group of movement-controlling neurons in the brain that are most affected by the defective torsinA protein. Also research ought to be undertaken to adjust the proteins in cells that may enable researchers to guard the vulnerable cells from disease.
The research was funded by the Dystonia Medical Research Foundation, the Bachmann Strauss Foundation, the Parkinson’s Foundation and the National Institute of Health.