The protein, torsinA, is defective in patients with DYT1 dystonia, an inherited condition that causes uncontrollable movements in the limbs and torso. Learning what torsinA does could be an important step toward developing a treatment for the disorder.
"The hope is that understanding as many forms of dystonia as we can will give us some insight into how we might treat movement disorders generally," says Phyllis I. Hanson, M.D., Ph.D., assistant professor of cell biology and physiology and senior investigator for the study. "Any new insights might also be helpful for understanding secondary dystonias. These are conditions in which dystonia is a complication of another disorder, such as Parkinson's disease."
The study is available in the early online edition of the Proceedings of the National Academy of Sciences and will appear in the May 18 print edition of the journal.
According to the Dystonia Research Foundation, approximately 300,000 Americans have some form of primary dystonia. DYT1 dystonia affects about 10,000 Americans.
Co-author Xandra Breakefield, Ph.D., professor of neurology at Harvard University, led the team that identified the gene for DYT1 dystonia in 1997. Researchers later found the gene makes torsinA. Study of torsinA's structure suggested it belongs to a family of proteins known as AAA+ ATPase proteins. This protein family typically helps cells recycle resources by breaking down assemblies of other proteins and molecules into their components, like disassembling a car for reuse of its parts.
Hanson, who studies behavior of cell membranes, previously found torsinA in the endoplasmic reticulum, a large compartment that has branches that pass through various regions of t
Contact: Michael C. Purdy
Washington University School of Medicine