Potential therapeutic target for Huntington's disease
Huntington's disease causes jerky, uncoordinated movements and a loss of control of motor function. It also results in deficits in learning and memory, as well as personality changes, such as dementia, depression, and aggression. Huntington's is ultimately fatal, and there are no treatments to stop or slow its progression. The disease is linked to a mutation in the Huntingtin gene, which causes a protein of the same name to fold up incorrectly like misshapen origami. Neurons cannot get rid of the misfolded protein, so it builds up in the brain, wreaking havoc in the cells. In the new study, published in the Journal of Clinical Investigation , scientists in the laboratory of Steve Finkbeiner, MD, PhD, showed that modifying the huntingtin protein through a process called phosphorylation can actually make the protein less toxic and allows cells to eliminate it more easily. In fact, phosphorylating a specific spot on the protein called S421 protected a mouse model of Hunting