Huntington's Disease

Background

Huntington's disease is inherited as an autosomal dominant disease that gives rise to progressive, elective (localized) neural cell death associated with choleric movements (uncontrollable movements of the arms, legs, and face) and dementia. It is one of the more common inherited brain disorders. About 25,000
Americans have it and another 60,000 or so will carry the defective gene and will develop the disorder as they age. Physical deterioration occurs over a period of 10 to 20 years, usually beginning in a person's 30's or 40's. The gene is dominant and thus does not skip generations. Having the gene means a 92 percent chance of getting the disease. The disease is associated with increases in the length
(Neurology, October 95) Treatments Researchers have identified a key protein that causes the advancement of Huntington's after following up on the discovery two years ago of the gene that causes this disorder. Shortly after the
Huntington's gene was identified, researchers found the protein it produces, a larger than normal molecule they called huntingtin that was unlike any protein previously identified. The question that they did not know was what either the healthy huntingtin protein or its aberrant form does in a cell. Recently, a team from Johns Hopkins University found a second protein called HAP-1, that attaches to the huntingtin molecule only in the brain. The characteristics of this second protein has an interesting feature- it binds much more tightly to defective huntingtin than to the healthy from, and it appears that this tightly bound complex causes damage to brain cells. Researchers are hoping to find simple drugs that can weaken this binding, thereby preventing the disease to progress any further. In other Huntington-related research, scientists have found where huntingtin protein is localized in nerve cells, a step closer to discovering its contribution toward Huntington's. A French team reported that they have developed an antibody that attaches itself to the defective protein in
Huntington's and four other inherited