Grant: Project Grant

Spinocerebellar ataxia type 6 (SCA6) is a devastating genetic disease that leads to progressive motor impairment (called ataxia) and cerebellar degeneration. SCA6 currently has no known treatment. Using a mouse model of SCA6, we have studied what genes are altered in the cerebellum. Out of the hundreds of genes that are dysregulated, the most down-regulated ones relate to mitochondria. Mitochondria are the powerhouse of cells, producing energy and participating in calcium storage. Our preliminary data suggests that mitochondria structure and function is progressively impaired in SCA6, with small impairment present at the onset of disease, which increases as mice age and ataxia worsens. Finally, we hope to reverse mitochondrial deficits using a targeting therapeutic, in order to improve cellular health and reduce ataxia. Since many neurodegenerative diseases share mitochondrial deficits, including other ataxias, we hope that the knowledge gained in studying SCA6 will help us find treatment approaches for other forms of ataxia as well.