Our early funding of the first genetically altered (“transgenic”) mouse model resulted in the groundbreaking discovery of DYT1 dystonia that showed behavioral features similar to patients with early onset dystonia. Since then, Bachmann-Strauss funded studies on transgenic mice and on the roundworm C elegans have shed light on the pathophysiology of DYT1 dystonia, abnormalities in the brain that may result in dystonia, and the impact of proteins.
In addition, two mouse models, one of L-DOPA responsive dystonia and the other of rapid onset dystonia-Parkinsonism, provide new information to characterize the link between dystonia and Parkinsonism. This research will also be useful for further study to develop new therapies.
Five new genes that protect dopamine neurons from dying – a hallmark trait of Parkinson’s disease – were recently identified in transgenic roundworm models. This is a possible step toward identifying new targets for drug development and genetic factors that make some people more susceptible to the disease.