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BookmarkScienceDaily (May 27, 2002) — Research on a tiny worm is yielding clues about dystonia, a disabling neurological disease of humans. University of California, Davis, researchers have found a gene in the nematode worm Caenorhabditis elegans that matches a gene altered in one form of dystonia. By studying the worm gene, they hope to find out more about how the human dystonia gene works.
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People with dystonia have sudden muscle contractions that force the body into abnormal and painful postures. It is the second most common neurological movement disorder, after Parkinson's Disease, affecting about half a million people in the U.S. and Canada. Scientists think that defects in parts of the brain that control movement cause the disease, but the exact causes are not known. Some milder types of dystonia can be treated with botulinum toxin injections, but there is no cure.
Lesilee Rose, an assistant professor of molecular and cell biology at UC Davis, discovered the gene, called OOC-5, while looking for genes that control cell division in Caenorhabditis embryos.
Rose and graduate student Stephen Basham found that in Caenorhabditis, the OOC-5 protein is required to establish polarity of the cell, so that different proteins can be sent to different ends before division. That allows a parent cell to divide into two new cells that are different from each other.
Establishing polarity is also important in many other kinds of cells in more complex animals. For example, human nerve cells secrete chemical messenger molecules only at the synapses at the far tip of the cell.
A database search showed that the protein produced by OOC-5 is related to a human protein called Torsin A found in human nerve cells and known to be mutated in people with early-onset dystonia.
With a new grant of $43,325 from the Dystonia Medical Research Foundation, Rose's lab will now study how OOC-5 interacts with other proteins in the worm. They hope that this will show how Torsin genes work in humans and how mutations in these genes can lead to dystonia.
