Chemical genetic approaches to SCA1 and SCA3.

Summary:

The cerebellar ataxias are caused by mutations that result in multiple insertions of the amino acid glutamine into specific proteins. When genes having this mutation are expressed by neuronal cells in culture they behave similarly to the cells that are affected in humans having the disease.

Using cell culture model systems will identify drugs that prevent neuronal cell death in culture. These drugs may be developed as new therapeutics for treating ataxias in addition to being used to study the biological mechanisms of this disease.

Brent Stockwell, PhD

Whitehead Fellow, Whitehead Institute

for Biochemical Research