STANFORD, Calif. - Stanford University Medical Center researchers have discovered a potential treatment for Huntington's disease. By enhancing the brain's natural protective response to the disease, researchers were able to alleviate the uncontrollable tremors and prolong the lives of mice with a neurological disorder that mimics Huntington's. Their finding suggests that a similar treatment strategy may be effective in humans.
"This is exciting because it has implications for therapy," said Lawrence Steinman, MD, professor of neurological sciences and pediatrics and senior author of the study, published in the February issue of Nature Medicine.
Huntington's disease is a hereditary disorder characterized by memory loss, abnormal movement and premature death. It affects 1 in 10,000 people, and children with an affected parent have a 50 percent chance of developing the disease.
An abnormal form of the gene called huntingtin is at the root of the problem. In healthy individuals, the huntingtin gene encodes a protein with 6 to 34 glutamine molecules - one of the essential building blocks of proteins - at one end. When the number of glutamine molecules at the end of the protein exceeds 36, Huntington's disease results. But the normal gene function remains a mystery.
According to earlier research, the brains of Huntington's patients become clogged with clumps of protein called aggregates. The aggregates are made up of the abnormal huntingtin proteins hooked together. The aggregations are formed by the action of an enzyme called transglutaminase and by the tendency of these proteins to stick together.
If the aggregates are the cause of the disease, Steinman reasoned, perhaps the disease could be controlled by preventing the two proteins from clumping into aggregates. He already knew that a compound called cystamine could keep the sticky protein, transglutaminase, under wraps.