Essay on Huntington's Disease - An Overview

Every cell within the body contains this entire set of chromosomes, which have bases arranged to form a code (Appai-Kubi). The four bases, cytosine, adenine, guanine, and thymine, interact to form the fundamental structure of DNA (Appai-Kubi). Huntington’s Disease is found on the fourth chromosome, with a sequence known as the “CAG repeat,” (Appai-Kubi). In someone who is not afflicted, the number of CAG repeats ranges from 10 to 28 (Sheth). Typically, more than 35 repetitions of CAG is associated with Huntington’s Disease, however, there are cases with people having up to 39 repeats not having the disease (Appai-Kubi). As the gene is passed on through families, the number of repeats generally increases, and with an increased number of CAG repeats, the earlier the symptoms develop (Sheth). This characteristic of the disease allows it to be tested for, by testing the frequency of CAG on chromosome 4 (Appai-Kubi.) During pregnancy, a woman can test for Huntington’s Disease in two ways; either amniocentesis, taking fluid from around the fetus, or by CVS, taking a sample of fetal cells from the placenta (Genetic Learning Center). A genetic test after birth can confirm the diagnosis after a series of neurological and psychological tests (Genetic Learning Center). Huntington’s Disease is inherited through an autosomal dominant pattern; meaning that whoever inherits the faulty gene will develop the disease throughout their lifetime (Genetic Science Learning

Huntington's disease is an inherited neurodegenerative disorder. It is passed on to children from one or both parents (though two parents with Huntington's is extraordinarily rare) in an autosomal dominant manner. This is different from autosomal recessive disorder, which requires two altered genes (one from each parent) to inherit the disorder.

The genetic disorder is caused by a mutation in the DNA segment CAG found in chromosome 4 which results nerve cell death. Phenotypic characteristics include gradual motor dysfunction, psychological issues that correlate to degeneration of metal health, and cognitive degeneration. Studies on transgenic mice have allowed a better understanding of the proteins that relate to Huntington’s

In 1993 it was discovered that a segment of DNA on the arm of chromosome 4 is linked to the HD gene. They found that at one end of the HD gene, the combination CAG is repeated too many times. In people without HD this CAG is repeated 5 to 35 times. In people who are affected by HD, CAG is repeated over and over again between 36 and 121 times.

Huntington’s disease destroys the organs that carry the functions of the central nervous system. Kalat (2013) states, “Huntington disease (also known as Huntington disease or Huntington’s Chorea) is a severe neurological disorder that strikes about 1 person in 10,000 in the United States” (A.B. Young, 1995, p. 258).Individual’s develop the symptoms in their middle age, but even if it is a rare disorders juveniles as well as children before the age of ten can develop the disease. Huntington’s disease is hereditary disease that is passed on from a parent. Huntington’s disease is of the lack of the chromosome 4, if one of the parents carries the gene, they can pass that gene to their

Huntington's Disease (HD) is an autosomal dominant, progressive, neurodegenerative disorder (Walker, 2007 and Harmon, 2007). The gene that causes the disease is located on the fourth chromosome and causes an abnormal number of repeats in the patient's genetic code (Harmon, 2007). Huntington's Disease can have devastating effects on patients' quality of life. The first symptoms of HD generally start between the ages of 30 and 45 and patients are typically asymptomatic prior to this time (Terrenoire, 1992 and Walker, 2007). However, the disease progresses with subtle changes in motor control, personality, and cognition. Patients eventually develop distinct

Huntington’s disease is an autosomal, dominant inherited disorder caused by a polyglutamine expansion at the amino-terminal on the huntingtin protein. It causes a progressive degeneration of spiny nerve cells in the striatum and cortex of the brain, impairing a person’s functional and cognitive abilities. Polyglutamine repeats of 36 are found to be non-threating but sequences containing an additional two or three repeats are associated with Huntington’s disease.

4. “Huntington Disease - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/huntington-disease.

In 2008, the FDA approved tetrabenazine, which is used to help treat chorea. This was the first drug approved to treat symptoms of HD ("Huntington's Disease: Hope Through Research," n.d.). Additionally, the use of antipsychotic drugs are used to help lessen the extremity of involuntary movements and help moderate the individuals temperament ("Huntington's Disease: Hope Through Research," n.d.). In contrast, the use of antipsychotics are not used to help treat dystonia and may actually worsen these symptoms by causing stiffness in movement ("Huntington's Disease: Hope Through Research," n.d.). Many individuals with HD also suffer from depression and may be prescribed fluoxetine, sertraline, or nortriptyline ("Huntington's Disease: Hope Through Research," n.d.). Mood swings and anxiety are controlled with the use of tranquilizers and/or lithium ("Huntington's Disease: Hope Through Research,"

Everyone can relate to the pain of having to watch a grandparent or great-grandparent slowly loose their faculties as they advance into older age. Now, imagine if this seemingly slow digression hit hard and fast at only age thirty. The age where one is finally living alone and independent, with the beginnings of a successful career and the hopes of starting a family and settling down. Huntington’s Disease quickly takes all these dreams and ambitions away, along with control of ones body and mind. The symptoms of Huntington’s, such as involuntary muscle jerks or twitches, had been seen throughout history for many years before being first recognized as an inherited disease in 1872 by Dr. George Huntington (“Hope Through Research). “The hereditary

The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with Huntington disease, the CAG segment is repeated 36 to more than 120 times. People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with 40 or more repeats almost always develop the disorder.

Huntington's disease is an autosomal dominant disorder, which is found on the # 4 chromosome. George Huntington discovered it in 1872. It mainly has an effect on the nervous system. There are around 210,000 bases between D4S180 and D4S127. The disease itself is found in 2% of people in their childhood, and in 5% of the people they were older then 60. (Miller p 16) In the majority of the affected people the disease is detected between the ages of 35-45. In males the disease begins around the time of their childhood. However, in females it begins later in life. This severe symptom has a tendency for the condition to worsen as it is passed on from generation to generation. Huntington’s disease is paternally

The HTT gene codes for the manufacturing of the protein huntingtin. It is not currently known what huntingtin is directly necessary for, but it seems to play a role in the proper function of nerves in the brain. Huntington’s Disease is caused by a mutation in the CAG trinucleotide repeat found inside the HTT gene. In people without the disease, the CAG repeats only about 25 times. People with Huntington’s Disease have anywhere from 35 to 120 CAG repeats within the HTT gene. An abnormal number of repeats forces the huntingtin protein to be formed longer than normal. Pieces of these proteins eventually break off and stick to each other to create clumps of protein that begin to gather in neurons in the brain. Eventually, this leads to total blockage and results in neuron death. As with most genetic tests, the testing for Huntington’s Diseases is about 99% accurate. Almost every patient with over 35 CAG repeats will develop Huntington’s Disease at some point in their lifetime (Huntington

Huntington 's Chorea or Huntington 's Disease is a rare progressive genetic disorder which afflicts roughly 7 out of every 100,000 people in North America (Rawlins, 2016, pp. 144–153). The disease manifests primarily in tissues of the brain, and affects the shutdown of many primary functions including speech, movement, and cognitive abilities. With a strong genetic component, there is a 50% chance of just one parent passing the gene linked with Huntington 's Disease along to offspring; additionally, studies have proven that everyone with the defective gene will eventually develop Huntington 's Disease. Though medications are used to mange some symptoms of the disease, there is no cure, and there are currently no medication options to manage the psychological and physical decline which comes with end-stage Huntington 's Disease.

The next disease being discussed, Huntington’s Disease, is a hereditary progressive neurodegenerative disorder that can affect the psyche, emotions, and behavior. However, it is most commonly known for the loss of cognitive functioning as well as motor disturbances (Leffler, 2011). Usually the initial signs of Huntington’s Disease starts with jerky movements that can affect various parts of the body (face, arms, legs, etc.) as well as the gradual beginnings of dementia; the memory is usually impaired. There also may be disorientation, or disillusioned ideas of time, place or identity, as well as personality changes and possible increased agitation. Common neurobehavioral changes include: a tendency to blame others for one’s faults, suspiciousness, impulsiveness, constant complaining, lack of self-control, and lack of