Huntington's Disease Research Paper

Huntington’s disease is an inherited condition in which nerve cells in the brain break down over time. No cure exists for the disease, but drugs, physical therapy, and talk therapy can help manage some symptoms. Testing is done by blood sample. The genetic test analyzes DNA for the HD mutation by counting the number of repeats the Huntington gene made. Part of the gene repeats itself over and over again like a stutter. The results are near 100% accurate. The disease appears around age 40.

Symptoms of the disease vary from person to person. Some people with HD may have a hard time walking, muscle loss or spasms, slurred speech, trying to eat, and swallow. Other symptoms are uncontrollable movements, tremors, depression, irritability,

HTT provides instructions to make a protein called Huntingtin. The protein Huntingtin plays a important role in the nerve cells of the brain. The multiple repeats in the Huntington’s gene are known as “CAG”. “CAG” is Cytosine, Adenine, and Guanine in DNA. The brain cells cumulate clumps of “CAG”, (from the repeated DNA sequence) of protein that become toxic, which results in cell death . Some people can lose more than 25% of their brain cells before they die (Genetic Science Learning

Pre-symptomatic testing is done by a blood test like PCR but you take the test when you don’t show symptoms for HD; but, you can take the test to know whether you carry the gene for the disease or not. This is when the test is the most accurate. With testing, you have to carefully consider your options and the decision must be your own. Confirmatory testing is used to confirm the diagnosis of symptoms a person is having to see if they have Huntington’s disease. Confirmatory testing is also used if a person is at risk for the disease because one of their parents has the Huntington’s gene. Both of these tests are nearly 100% accurate and can help you determine whether or not you have the disorder or if you only carry the gene for it. Testing for HD can help you make important decisions about your life regarding your