Near the end of the short arm of chromosome four, there exists a gene which can cause an individual to experience three completely different lives. If the gene is expressed normally, one will never know, as it will not cause the person any harm. However, if the gene simply does not exist, the individual will be born with Wolf-Hirschorn Syndrome, a devastating illness which causes disfigured facial features and mental retardation. (Ridley, 55) Victims of this syndrome rarely live past the age of seven. The last and most interesting situation occurs when this gene becomes mutated. In this case, the individual will suffer from Huntington’s Chorea, a debilitating neurological disease which will not show its effects until mid-life. …show more content…
Those afflicted with Huntington’s Disease generally begin to exhibit problems with their “control of bodily movements, intellectual functioning and emotion(s)” (Fact Sheet: Huntington’s Disease). The disease generally begins to affect the individual around the age of fifty, though it can occur much earlier. The victim will usually suffer for ten to twenty-five years before succumbing to complications of the illness, generally heart failure or aspiration pneumonia (Fact Sheet: Huntington’s Disease).
The area of the Huntington Gene which is known to mutate contains only one “word” each consisting of three “letters” as Ridley explains (55). The repetition of the bases “C A G” throughout the gene can occur anywhere from once to over one hundred times. The number of repetitions determines whether or not an individual sees the effects of the disease and at what age the symptoms begin. The mutated form of the gene arises when an excessive number of “C A G” repetitions occur. The average number of repeats for a normal Huntington Gene is between ten and fifteen (Ridley, 55). A study presented by Dr. Kathleen Shannon at the General Meeting of the Illinois Chapter of the Huntington’s Disease Society of America on March 7, 1997 concluded that there are specific numerical cut-offs for having Huntington’s.
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.
It is said that Huntington's disease was first introduced to Australia by a Somerset woman who arrived in Tasmania aboard the "Arab" ship in 1842. She had thirteen children; eight with her first husband and five with her second. Five of the six females and four of the seven males inherited the disease.
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 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
Researchers believe that this specific gene is involved with the formation of a structure called the junctional membrane complex, which connects specific channels in the cells with other channels in the surface of the cell. This complex is involved with charged calcium atoms, which is crucial for transferring signals in cells. Juntophillin-3 is most likely involved with signaling in between neurons in the brain. A specific kind of mutation in the JPH3 gene has been found to cause some symptoms and signs that is alike with those who have HD. Researches have named this condition Huntington Disease-Like 2, or HDL 2. The mutation with HDL 2 increases the size of a DNA segment known as CAG/CTG trinucleotide repeat in JPH3. People with HDL2 have 44 to 59 repeats, and people with 29 to around 43 repeats have are not likely to develop signs and symptoms of this condition. Researchers believe that JPH3 gene produces a changed version of messenger RNA. The altered messenger RNA begins to form clumps in neurons that interfere with normal functions of the cells, and eventually lead to the death of neurons throughout the brain which show signs and symptoms of HDL2 (Huntington disease-like
To this day, I have yet to meet another person with Huntington disease but I since then I have been intrigued by the disorder. The goal of this paper is to provide
Surprisingly, ethnicity has substantial impact concerning risks, prevalence of Huntington’s does vary with ethnicity, people with African or Asian ethnicity have a 1 in 1,000,000 chance with a prevalence assessed at 0.38 cases per 100,000. Whereas the prospects for Caucasian people are 70 to 100 times higher with about 3 to 7 cases per 100,000. According to Novak and Tabrizi (2010), “The disease occurs in all racial groups but is most common in people of northern European origin. Its prevalence in the Western hemisphere is 7-10/100 000” (p. 1).
Huntington’s disease is a hereditary brain disorder that affects people all over the world. If your parent has this disease, there is a fifty-percent chance that you will develop it at some point in your life. Huntington’s disease is caused by a defect in the dominate gene called huntingtin. This defect is caused by a part of DNA called CAG repeat. Normally the huntingtin gene is repeated about ten to twenty-eight times, and plays a major role in brain development. When a person has Huntington’s disease the huntingtin disease repeats anywhere from 36 to 120 times. When the gene repeats this much the elongated proteins separate into smaller pieces and collect neutrons, disrupting the normal cell function. This effects the parts of the brain
The HTT gene plays an important role in the brain’s nerve cells and involves a DNA segment known as CAG trinucleotide repeat. The CAG repeat is made up of a series of three DNA building blocks that appear multiple times in a row. A normal repeat of CAG is only 10-35 times within the gene, however, affected individuals have a 36-120+ repeat. An increase in the CAG size leads to the production of abnormally long versions the the Huntington Protein. These longer versions are then cut into smaller and toxic fragments that bind together and accumulate in neurons; this disrupts the normal functions of these cells. The dysfunctional, and eventual death, of neurons in specific areas of the brain control the signs and symptoms of Huntington Disease
Gene is the basic unit of heredity in a living organism. It is also composed of the DNA (deoxyribonucleic acid). Huntington's disease is caused by abnormal genes in the nerve cells in the brain. In the global population Huntington's disease evaluates that for every 100,000 people 5-10 people are going to have Huntington's disease. In the United States, 30,000 are affected by Huntington's disease and 150,000 people have 50 percent risk of evolving this disease. Moreover, in middle east countries Huntington's disease is estimated to affect 3-4 people per 100,000. Explaining the history, meaning and how the genes of Huntington's disease inherited helps to realize the disease and its risk.
Huntington’s disease affects 30,000 Americans and has 200,000 more Americans at risk to contract the disease. Huntington’s is now one of the most common brain disorders to be inherited. This paper will discuss and educate about the disease, pathology, signs and symptoms, etiology, prevalence, diagnostic studies, treatments, and the prognosis of Huntington’s disease.
Imagine not remembering the names of your family members, having difficulty swallowing, not being able to control your movements. Imagine being trapped in a body that is turning against you, slowly deteriorating around you and you are helpless to stop it. This is the very real and terrifying reality for those with Huntington’s disease. “Many describe the symptoms of HD as having ALS, Parkinson’s and Alzheimer’s – simultaneously.” This disease isn’t picky, it devastates the families of people from all races or ethnic groups around the world, and a person’s sex isn’t an issue. “Huntington’s disease is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain.” This disease is passed from
Huntington’s disease is an inherited disorder of the central nervous system, and the degeneration of nerve cells in the brain, which causes the brain to deteriorate.
Human beings have two copies of genes that provide genetic information to produce Huntington, which is a protein. The two copies are usually labeled HTT (Hayes & Reichsman, 2009). A portion of this gene is as a result of a repetitive section referred to as a trinucleotide repeat that changes in terms of length from one person to the other, as well as between different generations. In case the repeat section of the gene is present in a gene that is considered healthy, then an active mutation might lead to an increment in the repeat sections, which might in turn lead to a gene that is defective (Marks & Neill, 2007). Subsequently, the length of the repeat portion might reach a given level where it leads to the production of altered and defective proteins
The first part of the article is about Huntington’s Disease. This is a genetic disease that you can not do anything about, even if you know you have it. The disease can spread genetically to your children and generations past them. The next part is about family concerns. Family around you might start to ignore you, and you will start to help problems socially. These conditions can cause guilt and depression for many people. There are also privacy concerns about knowing your genes.