Final Huntington’s Disease Research Paper Huntington’s disease also known as Huntington’s Chorea is passed from parent to offspring (hereditary) with a genetic mutation of the dominant HTT gene. Huntingtons disease was discovered and recognised as an inherited disease in 1872 by George Huntington, the discovery of the gene came later in 1993 when a group of scientist found it on the HTT gene. The disease causes degeneration of nerve cells in the basal ganglia in the brain and behavioral, cognitive, and movement problems for example, problems with mood, memory and speech.
There are three main stages of Huntington's disease, early, mid, and late stages. In the early stage there are small noticeable changes in mood, movement and cognitive, …show more content…
Abnormalities of movements depend on the person and the stage of the disease.There is a direct genetic test to make or confirm a diagnosis. A blood and/or a tissue sample is used and the test analyzes DNA for the mutation by counting the number of repeats in the HD gene, scientist use markers located the gene. Those who do not have HD typically have 28 or fewer CAG repeats, while others with HD usually have 40 or more repeats. The test is known as Presymptomatic testing and if either parent of the offspring had HD, the person's chance would be 50-50. Only a person who is born with the abnormal mutated gene can get the illness and pass it on to their children. People at-risk of the disease have a choice of being tested or not, some believe there is no point because it may happen eventually and there is no cure while others want to make decisions on their way of life based on the test results. Also although the testing on children is typically prohibited before the age of 18, they can be tested for early onset also known as juvenile onset HD. Testing is also an option for pregnant women Pre-genetic diagnostic (PGD) with In Vitro Fertilization (IVF) which will check whether or not the fetus will have the mutated gene. There is no cure for the disease but symptoms associated with the disease can be helped with certain medications to control emotional and movement …show more content…
“Huntington's affects between three and seven Caucasians out of 100,000…[and is] less common in other ethnic groups, such as Chinese, Japanese and African blacks.” according to Intelihealth a company that works with Harvard Medical School. It is seem most commonly between adulthood ages of 30-50 and is rare to be show in people younger than 20, and is know as early-onset it is also rare in people near the age of 70 or older. The HTT gene provides the order for creating huntingtin protein. The protein according to Genetic home reference United States National Library of Medicine it “appears to play an important role in nerve cells (neurons) in the brain,” and is found in body tissues. Also according to the University of Utah Health Sciences, “The job of its protein product, huntingtin, is to direct the delivery of small packages (vesicles containing important molecules) to the outside of the cell.” This conclusion corresponds to the degeneration of nerve cells in the brain caused by Huntingtons. The Huntington's disease gene HTT has been mapped at the front end of a chromosome four at 4p16.3. The disease is caused by a mutation of the gene HTT and is passed
There are three main stages of Huntington's disease, early, mid, and late stages. In the early stage there are small noticeable changes in mood, movement and cognitive, …show more content…
Abnormalities of movements depend on the person and the stage of the disease.There is a direct genetic test to make or confirm a diagnosis. A blood and/or a tissue sample is used and the test analyzes DNA for the mutation by counting the number of repeats in the HD gene, scientist use markers located the gene. Those who do not have HD typically have 28 or fewer CAG repeats, while others with HD usually have 40 or more repeats. The test is known as Presymptomatic testing and if either parent of the offspring had HD, the person's chance would be 50-50. Only a person who is born with the abnormal mutated gene can get the illness and pass it on to their children. People at-risk of the disease have a choice of being tested or not, some believe there is no point because it may happen eventually and there is no cure while others want to make decisions on their way of life based on the test results. Also although the testing on children is typically prohibited before the age of 18, they can be tested for early onset also known as juvenile onset HD. Testing is also an option for pregnant women Pre-genetic diagnostic (PGD) with In Vitro Fertilization (IVF) which will check whether or not the fetus will have the mutated gene. There is no cure for the disease but symptoms associated with the disease can be helped with certain medications to control emotional and movement …show more content…
“Huntington's affects between three and seven Caucasians out of 100,000…[and is] less common in other ethnic groups, such as Chinese, Japanese and African blacks.” according to Intelihealth a company that works with Harvard Medical School. It is seem most commonly between adulthood ages of 30-50 and is rare to be show in people younger than 20, and is know as early-onset it is also rare in people near the age of 70 or older. The HTT gene provides the order for creating huntingtin protein. The protein according to Genetic home reference United States National Library of Medicine it “appears to play an important role in nerve cells (neurons) in the brain,” and is found in body tissues. Also according to the University of Utah Health Sciences, “The job of its protein product, huntingtin, is to direct the delivery of small packages (vesicles containing important molecules) to the outside of the cell.” This conclusion corresponds to the degeneration of nerve cells in the brain caused by Huntingtons. The Huntington's disease gene HTT has been mapped at the front end of a chromosome four at 4p16.3. The disease is caused by a mutation of the gene HTT and is passed