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 that time, Bachmann-Strauss Foundation supported the development of several additional animal models that are bringing greater insight into the causes, progression and treatment of dystonia and Parkinson’s disease:
- - Two mouse models, one of L-DOPA responsive dystonia and the other of rapid onset dystonia-Parkinsonism, provided new information to characterize the link between dystonia and Parkinsonism. This research also will 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 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.
- - A mouse model of a novel mutation in the DYTI gene, TOR1A developed by Dr. Nicole Calakos and her lab at Duke University, enables research on the role of abnormal synaptic plasticity in patients with late-onset, sporadic focal dystonia. Using cell-based protein expression assays to compare the mutant protein to normal TorsinA and the DYT1-causing form of TorsinA, Dr. Calakos’ group found that this novel mutation caused abnormalities more akin to the DYT1 mutant protein, but also with some distinctive features.
- - In 2014, a team of researchers led by neurologist William Dauer, MD, at the University of Michigan developed a new strain of mice that closely mimics the symptoms of dystonia, which include uncontrollable twisting, stiffening and spasms of muscles in the neck and limbs. A paper published in the Journal of Clinical Investigation details important new discoveries about dystonia using his mice. http://www.uofmhealth.org/news/archive/201406/dystonia