Huntington’s
The Genetics of Huntington’s disease
Ashley Irwin
PSY 104
Kandi Wojtysiak
January 24, 2012
Huntington’s disease
Plenty of people love the fact that they can enjoy a normal life because their brain functions accordingly. Well not everyone has the gift of normality. In this harsh world people are dying of all types of diseases and things that are undetectable or even treatable due to the fact that they have unknown origins. Among these fatal and life threatening ailments, Huntington’s disease, otherwise known as (HD), takes precedence.
A woman stares pensively out her bedroom window. Today is her twentieth birthday. Most people have the whole rest of their lives to look forward to when staring out the window at this age, but not Lindsey. She isn’t sure. Ten years ago her mother was diagnosed with Huntington’s disease, a late-onset genetic disorder, and Lindsey was forced to watch her mother deteriorate to the point where she could no longer take care of herself. Lindsey and her brothers had to put their mother in a home. Now Lindsey faces a lot of decisions and dilemmas. She has dreams of becoming married. But, she worries if she could have the disease, and if she should decide whether or not to have children. But how long does she have until she begins to deteriorate like her mother? Or maybe she is the lucky one; maybe she didn’t inherit this gene from her mother. Can one of her brother’s be next in line?
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In this paper, I will discuss the role of genetics in Huntington’s disease, how the genes of the two parents influence the traits of an offspring in HD, and I will examine how abnormalities can contribute to genetics of HD.
Throughout human history scientists wondered what a disease is, and how they can prevent it. There are different types of diseases. Some diseases are spread by microbes and viruses, and some are genetic, also called disorders. Genetic disorder is a disease that is caused by an abnormality in one’s DNA. The abnormality, such as mutation, may occur in the single gene as well as in the whole chromosome or in a set of chromosomes. One of the genetic disorders that greatly influence human life is Huntington Disease. Huntington Disease (HD), also called Huntington Chorea, is a brain disorder resulted from a gene mutation in protein called Huntington. The mutation in Huntington causes a progressive degeneration of the neurons in the basal ganglia. The word “chorea” comes from Greek, and means “dance” in Latin. It refers to the uncontrollable movements of the afflicted individual. Even though the disorder is named after George Huntington, he was not the first scientist who witnessed this disease. His famous paper “On Chorea”, which was submitted by him in 1872, was the first paper that described Chorea in details. Much of the information for Huntington’s paper was drawn from his father’s and grandfather’s written observations, both physicians who had described the involuntary shaking in patients. The paper gained Huntington instant notability because he was able to clearly point to the genetic inheritance as the mode of transmission, and he also noticed that the first symptoms usually appear in the adult age and are accompanied by a mental decline as well. It is due to these significant observations and conclusions that “Huntington’s Disease” bears George Huntington’s name. Nowadays, approximately 30,000 people in the United States suffer from HD, with another 15,000 at risk of developing this disorder.
Huntington’s disease is a fatal inherited disorder characterized by slow gradual personality changes, dementia, and chorea form movements. It is a progressive disease; its average onset is thirty to forty years of age, and the duration of the disease is about ten to twenty years with death as the outcome. It is known that for Huntington’s disease, there is a degeneration of cholinergic and GABAergic neurons in the basal ganglia and the cerebral cortex. (Ball, Harper 1992) The etiology of nerve cell death in Huntington’s disease is unknown. However, there is a recent hypothesis implicating defects in mitochondrial energy metabolism as the pathology of Huntington’s disease. Huntington’s disease is an autosomal dominant disease. The genetic defect appears on the short arm of the chromosome 4, and it is an extended repetition of the three nucleotide bases (cytosine, adenine, and guanine; CAG) that code for the amino acid glutamate. This disease affects men and women equally, and it usually appears after the individuals have married and had children. Each child of a person who has HD has a 50% chance of inheriting the disease, and the disease does not skip a generation. Also, each of that child’s’ children will have a 50% chance of inheriting the gene, and so on and so forth. If you do not have the HD gene you can’t pass it on to your children and if your mate doesn’t have it then there is no way your child will develop the disease (spontaneous cases of HD are less than 0.1%).
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A single gene causes some conditions, like sickle cell disease and Huntington’s disease. (Mossler , 2011)
According to Drellishak (2002), the World Wide Web shows that each of us has 46 chromosomes which come in pairs; one member of the pair comes from each parent. Therefore, 23 chromosomes are from the mother, and 23 chromosomes are from the father. There are two types of chromosomes: 1) autosomal chromosomes, which are the first 22 pairs, and 2) sex chromosomes, which are the 23rd pair (the 23rd pair in females consists of two X-chromosomes, and the 23rd pair in males consists of an X-chromosome and a Y-chromosome).
Since Huntington disease is autosomal dominant, this means the gene involved is on an autosomal chromosome (not one of the sex chromosomes) and recently has been localized on the fourth autosomal chromosome pair (the #4 chromosome).
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In affected individuals, one gene of this gene pair (the HD gene) is not functioning correctly and expresses itself more strongly, or ‘dominates’ the other working gene. Since it is not on one of the sex chromosomes, it can affect both males and females. Males and females have the same chance of having affected children. There are no “carriers” for Huntington’s. HD is present in all areas of the world but is dominant in western Europeans and their descendants. In the United States every 1 in 10,000 people have developed HD, that’s 300,000 people with another 150,000 at risk (all of those …There is complete penetrance, so all who have the disease will develop symptoms. There are some cases however of juvenile or geriatric Huntington’s disease. There is currently no cure, so to those who develop the disease, it is lethal.
The most characteristic feature, and the symptom which is used to first diagnosis Huntington’s, is chorea. Chorea can be characterized by a series of tics affecting the face and limbs. In more advanced Huntington’s the chorea turns into athetosis or dystonia in which the affected person experiences a “writhing quality” (Furtado 7).
There are other characteristics of this deadly disease too in which the patient slowly loses control of all involuntary movements. Eye movement abnormalities are sometimes excessive blinking or gazing. There are psychological and sexual changes as well as cognitive dysfunction and a decline of memory. Patients usually become irritable, impulsive, and highly suspicious of others. They also experience depression, become anti-social, and develop delusional thinking. There is a high suicide rate among those with Huntington’s, but there is a discrepancy about whether it is because of the depression, or because the disease is emotionally painful and lethal without any hope of recovery. Reduction in number of words produced, difficulty in comprehension and articulation as well as visiospatial problems are some of the cognitive dysfunctions. Recognition memory in patients with this disease is usually normal, but remote memory, in which people try to recall the past, or even the present, is what is affected by the disease (Furtado 8).
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Huntington’s is an awful disease that takes control of the brain and causes slow atrophy until death, but luckily it is a rare disease. Only one in ten thousand people are affected. One hundred and fifty thousand relatives of Huntington’s patients are at risk, but the only way to tell whether they have inherited the mutant gene or not is by the duration of time or by predictive testing (Saltus 1).
Once an individual has discovered whether she has the gene for Huntington’s disease she can start preparing for her future. She can begin to make plans regarding marriage, having children or informing children of their risks, planning her career, buying a home in a certain location (maybe one near a hospital or nursing home) or a certain type of home (one story for easier mobility), and also make decisions about health, life, and disability insurance. And lastly, when people learn of their futures, and know that because of a certain condition their lives will be short-lived; they tend to live the rest of the normal lives they have to the fullest. “They develop a greater sense of clarity about their lives. Realizing that time is fleeting, they are able to prioritize their lives, and let go of things that are trivial and insignificant. ( Terrenoire,1992)
So, yes this disease is indeed a life threatening and fatal disease, which we need to figure out a cure for. In the end with help of testing and more people’s understanding of the subject Huntington’s disease and the fact there is no cure can be a thing of the past. By gathering the information to explain this disease, and putting all my major data together, I was able to discuss the way parents cause the gene to function and how it then kept repeating from generation to generation and the abnormalities involved in the process.
Works Cited
Ball, David, and Harper, Peter. “Presymptomatic testing for late-onset genetic disorders: lessons from Huntington’s Disease.” Faseb Journal 6.10 (July 1992): 2818-2819.
Drellishak, Renee. “Genetic Testing.” World Wide Web. 2002,http://www.lib.uchicago.edu/~rd13/hd/testing.html.
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Furtado, Sarah, and Suchowersky, Oksana. “Huntington’s Disease: Recent Advances in Diagnosis and Management.” Canadian Journal of Neurological Sciences 22.1 (Feb 1995): 5-12.
Mossler, R.A. (2011). Child and adolescent development BridgepointEducation, Inc.
Saltus, Richard. “Genetic Clairvoyance.” Boston Globe 8 January: 1995.
Terrenoire, Gwen. “Huntington’s Disease and the Ethics of Genetic Prediction.” Journal of Medical Ethics 18.2 (1992): 79-85.
