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Researchers are understanding more about a deadly genetic disease, and their knowledge could one day lead to a treatment.
Huntington's disease is an inherited genetic disorder that leads to physical and mental deterioration, and ultimately to death. There's no known cure for this disease. Scientists discovered the gene linked to Huntington's disease, called huntingtin, 10 years ago. Now researchers at UT Southwestern Medical Center at Dallas have found how this gene causes the damage associated with Huntington's disease.
Huntington's disease selectively kills cells in the part of the brain called the striatum, but doesn't affect other nerve cells. This part of the brain controls emotions, body movements and other neurological processes. The mystery was how and why only these nerve cells were targeted.
The UT Southwestern researchers discovered that the mutant huntingtin gene causes abnormally high levels of calcium in the striatum neurons. These nerve cells normally use calcium to communicate with other cells, but when calcium levels are too high, the cells die.
Dr. Ilya Bezprozvanny, the UT Southwestern physiologist who led the study, says now that researchers know this, they hope to continue their research and develop treatments that will keep calcium levels from rising so high that they kill cells. This may help slow the progression of Huntington's disease.
