Research identifies and localizes a mechanism of Huntington's disease
The protein huntingtin (Htt) is found throughout the body, though its exact functions are unclear. In Huntington's disease, Htt is mutated in a specific way, yet the mutation only affects a specific area of the brain, the corpus striatum. Cell death there leads to irreversible movement problems. The mechanism remains unknown.
Research led by Solomon Snyder at Johns Hopkins University (Science, June 5, 2009) has discovered a likely reason for the localized pathology of Huntington's disease. Using JAX® Mice, the researchers determined that the mutant Htt protein binds to another protein, Rhes, which is found specifically in the corpus striatum. Rhes binding leads to yet another binding to a small regulatory protein known as SUMO, creating a toxic reaction for the cells.
Huntington's disease is a genetically dominant disease and can be diagnosed well ahead of symptom onset. Pharmacologically blocking the binding of Rhes with mutant Htt offers a possible preventive measure for what is now a devastating and untreatable disease.
