New Mouse Model Developed for Spinocerebellar Ataxia Type 6, a Polyglutamine Disease Like Huntington’s; Simple Eye Blink Conditioning Test May Provide Early Diagnosis

Scientists at the Ruhr-Universität Bochum in Germany have established a mouse model for the human disease spinocerebellar ataxia type 6 (SCA6). SCA6 is characterized by movement deficits and caused by similar genetic alterations as Huntington’s disease. The mouse model will be used to investigate the disease mechanisms. Experiments suggest that an impairment of eye blink conditioning could be an early disease symptom. The team from the Department of Zoology and Neurobiology published its data in the June 10, 2015 issue of The Journal of Neuroscience and the work was highlighted by an editor’s commentary. The article is titled “Spinocerebellar Ataxia Type 6 Protein Aggregates Cause Deficits in Motor Learning and Cerebellar Plasticity.” The researchers noted that SCA6 is a movement disorder that results in the loss of a special type of neuron in the cerebellum called Purkinje cells. These neurons process sensory information to coordinate movements. The disease has a late onset and develops in the second period of life. Patients are often wheelchair-bound and no therapies are available. “To understand, how the disease originates and progresses and to develop new therapeutic strategies, it was important to establish a new mouse model,” says Dr. Melanie Mark, a neuroscientist from the Ruhr-Universität Bochum and lead author of the Journal of Neuroscience article. The researchers said that SCA6 belongs, together with Huntington’s disease, to the family of polyglutamine diseases. These diseases are characterized by repetitions of the amino acid glutamine in disease-specific proteins. The team of Professor Dr. Stefan Herlitze used a human calcium channel fragment from a SCA6 patient containing stretches of glutamine and inserted it in cerebellar Purkinje cells of mice.
Login Or Register To Read Full Story