Pinpointing the Origins of Ataxia

Third Place Winner: Pinpointing the Origins of Ataxia

Photo by Patrick Grant, Ph.D., associate professor, Charles E. Schmidt College of Medicine

Ataxia is a neurodegenerative disease that results in loss of posture, balance, and coordination of movement. An emerging picture is that impairment of a type of star-shaped brain cell called astrocytes is associated with a lack of functional support of neurons that subsequently result in such motor impairments. Here a human astrocyte (red) bearing the mutant gene causing the disease spinocerebellar ataxia type 7 (SCA7) displays aggregates of the ataxin-7 protein (green) within its cell nucleus (blue). Such protein aggregates are characteristic of progressive disease. In healthy cells this protein is more evenly distributed throughout the nucleus where it functions in controlling the activity of numbers of genes.