WASHINGTON — Scientists have solved a mystery surrounding a horrific illness: why people with Huntington’s disease harbor a faulty protein throughout their bodies but it destroys only certain brain cells. The discovery may provide a long-awaited target for developing treatments for the incurable killer.
“Up until now, nobody had the vaguest notion of what was the cause of the brain damage and the death,” said Dr. Solomon Snyder of Johns Hopkins University, whose team reported the findings in today’s edition of Science.
Huntington’s is a rare inherited disease — there are an estimated 30,000 U.S. patients — that typically strikes in the late 30s or early 40s. What starts as uncontrollable twitches and jerks and deterioration of mental abilities inexorably worsens until patients can barely eat, speak or walk. Death occurs a decade or more after symptoms begin.
One mutated gene is the cause. A child of a Huntington’s patient has a 50-50 chance of inheriting it, and anyone who does will develop symptoms at some point. The new research found the bad gene creates a faulty protein found in all cells. Yet the only cells that die are certain neurons, mostly those in a movement-controlling brain region called the corpus striatum that by the time patients die is so ravaged it’s paper thin. Why? A second protein, Rhes, is the culprit, Snyder’s team found.
With the discovery, one next step is to see whether removing the faulty protein from mice with Huntington’s slows or prevents the brain-cell death without causing too many side effects.
