Huntington's Disease

A Presentation By Brooke Lucas

How does one get Huntington's?

Huntington's disease is a genetic disorder that causes a mutation on the short arm of the human body's 4th chromosome (4p16.3). The mutation causes there to be a CAG trinucleotide repeat expansion; Huntington's is 1 of 7 diseases known to do this. However, Huntington's specifically affects the huntingtin (HTT) gene. Huntington's disease is passed down in an inheritance pattern known as autosomal dominance which allows it to affect many members in one family.

So it affects a gene, big deal?

Yeah, it's a HUGE deal. When the HTT gene is mutated in this way, it does it's job a little too well. It should produce the CAG repeat 10-35 times but will now produce the repeat 36-130 times! If one has 36-39 repeats, they are at risk and may have some symptoms of Huntington's but 40 or more repeats and a patient will almost always have this disorder. CAG codes for Glutamine which will create an extremely long huntingtin protein. These proteins are cut into fragments, which are toxic, and they all bind together just to gather in neurons. Neurons are not a cell that should be messed with because they are nerve cells that affect the sections of the brain that control movement, thinking, and emotions. The disruption in neurons' jobs will lead to death.
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Symptoms Common With Huntington's Disease

Other symptoms include choking, difficulty swallowing, diminished speech, and death approximately 18 years after onset.

What can doctors do for their affected patients?

There are currently no treatments that rid one of the disease but drugs and therapy can aid in a better life. Drugs such as antidepressants, mood stabilizers, antipyschotics, and involuntary movement suppressors can help with chorea, violent outbursts, possible delusions. Physical therapy can help retain as much function as the patient is able while counseling can help with extreme emotions expressed by the individual.

Huntington's Affect On The World

There are approximately 30,000 Americans with Huntington's disease at any given time. Huntington's affects all sexes and races and is not statistically found higher in any one given area over another across the globe.

Why should one care about Huntington's?

Huntington's can mimic depression, anxiety, Bipolar disorder, ADD, Alzheimer's, Schizophrenia, and many more which means it is often misdiagnosed. People with similar symptoms should check their family history for Huntington's disease.

Due to the combination of many mental instabilities, Huntington's patients are prone to abuse of drugs, alcohol, and people. If a loved one is infected, one should be especially aware of the possible challenges on their relationship.