The symptoms of Huntington’s are horrific. Symptoms include involuntary gestures, absent-mindedness and then as if the person is intoxicated staggering and other bizarre movements of the body are exhibited. Simple every day tasks are impaired and lastly as the disease envelops its host the person exhibits depression and aggressiveness. The gene found on chromosome 4 was identified twelve years ago as the one that is responsible for the damage this disease causes. Genetic tests are available to determine if the mutant gene has been inherited. There is a 50% chance of getting the disease if one has inherited the gene.
Although we have the gene marked and can test for the disease we still do not how this devastation occurs. The defective gene encodes an abnormal protein that is toxic to nerve cells. The faulty protein then inhibits a key growth factor which starves parts of the brain.
In the year 2000, scientists inserted a normal huntington gene in a culture with an abnormal one and discovered that the normal gene kept neurons alive that would otherwise die because of the mutant gene. The process upon further medical discoveries finds that the interaction of the good and bad gene is a more complex process and good results do not always occur.
Innovative treatments are being researched by using fetal tissues as well as stem cells which would insert themselves in the patient and correct the aberrant gene. This research has hope for the next generation that may be afflicted with Huntington’s disease.
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