Scientists Identify New Protein in Neurological Disorder

Kansas State University and the University of Pittsburgh co-led a study that focused on a mutated protein associated with early onset torsion dystonia (EOTD), the most severe type of dystonia, which typically affects adolescents before the age of 20. Dystonia causes involuntary and sustained muscle contractions that can lead to paralysis and abnormal postures. Researchers built the study on a decade-old discovery that patients with EOTD typically have a mutated gene that encodes the protein TorsionA. “TorsionA is a protein that all people have in their bodies,” said one of the study’s authors. “It appears to perform an important role in the nervous system, but currently nobody knows what that role is. There also is no understanding of the link between the mutation and dystonia.” In order to study protein expression in a living organism, researchers used years — one of the simplest living systems. The yeast was engineered to produce the human protein TorsionA. Observations revealed that a second protein — named BiP — helps process the TorsionA protein and maintain its active form. Future studies may focus on BiP as a target for treating dystonia. To read more about this study, click here.