...Huntington Disease Rachelle Jelosek Idaho State University Jackson is a healthy twenty-seven year old male who recently presented to his doctors office inquiring about genetic testing. Jackson recently married, and his wife Alisha is anxious to start a family. Unfortunately Jackson does not share Alisha's enthusiasm because he fears that he is a carrier of a deadly genetic mutation. Just five years ago Jackson's mother was diagnosed with Huntington's Disease at the age of 43 and Jackson's grandmother succumbed to the disease at the age of 68. Jackson is an only child and although unconfirmed and heavily denied by his family Jackson is convinced that his mother discovered her ill fate shortly after he was born. Jackson's wife and father do not want him to be tested for the disorder because they fear a positive diagnosis will destroy any life he has now and in the future . Jackson has endured years of watching his loved ones suffer and does not want to pass the disorder on to his children. The purpose of this paper is to define and describe Huntington's disease (HD), explain inheritance patterns, describe the specific gene mutation seen in patients with HD, discuss reproductive issue and outline the ethical and social implications associated with genetic testing. Huntington's disease was named after Dr. George Huntington, who is credited for discovering the hereditary disorder in 1872(Huntington’s Disease Society of America, 2008). HD progressively destroys neurons...
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...The Huntington’s disease Author’s name University Affiliation Nancy Wexler is an American geneticist at Columbia University as the Higgins Professor of Neuropsychology. She is known for discovering the location of the gene causing Huntington’s disease. She works in the field of genetics despite earning a Ph.D. in clinical psychology. Currently, she works as the president of the Hereditary Disease Foundation clinic initiated by her father. The personal situation that motivated her to take up the study was the prevalence of Huntington’s disease in her family (Quarrell, 2008). Her grandfather, mother and three uncles died of the disease. She got prepared professionally for this task from the bright background as her father was a psychoanalyst while the mother was a geneticist. She also made up her mind to go for the gene testing hence added to her credibility. Additionally, the doctoral thesis she wrote on the emotional features of people at risk for Huntington’s disease also helped her. She contributed to the effort to produce a chromosomal test to identify carriers of the disease. Hungitin protein encoded by the Huntington’s gene plays a significant role in the neurons of the brain for development before birth. In cells, this protein is involved in transporting materials, chemical signaling, binding to proteins, and protects the cells from self-destruction. The coding area of the gene contains the DNA sequence repeated many times. People infected with Huntington disease...
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...Huntington’s disease is fatal genetic disorder that causes the gradual breakdown of nerve tissue in the brain. Day be day, a persons physical and mental brain state slowly deteriorate until they are unable to do essential body functions such as swallow and breathe. During this process, patients loose the ability to walk properly, speak and comprehend, and even eat. After symptoms of Huntington’s disease begin to take over a patients body, their life as they knew it changes significantly, as they loose their independency. Unfortunately, there is no definite cure of Huntington’s disease. It is a genetic neurological degenerative disease, meaning that it is an inherited disease that slowly dismantles the brains ability to function properly. A patient who contains the Huntington's gene has the 50% likelihood of passing it onto their offspring, therefore there are approximately 30,000 US citizens are currently suffering from the disease....
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...Huntington’s disease is an autosomal dominant neurodegenerative condition that is currently untreatable and inevitably fatal. Associated signs and symptoms include involuntary and impaired movement (chorea and dystonia), compromised cognitive abilities and psychiatric disorders such as depression, obsessive compulsive disorder, mania and bipolar disorder (Mayo Clinic Staff, 2014). Although symptoms usually appear between the ages of 35 and 55, they can begin at any age and usually cause death within 10 to 20 years. (Nordqvist, 2014) The source of Huntington’s disease was first traced to chromosome 4 with Southern blotting techniques and then focused more precisely between 4p16.1 and 4p16.3, on the short arm, using in-situ hybridization (Wang...
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...Huntington's disease is an adult onset progressive brain disorder that causes uncontrolled movement, emotional problems, and the loss of thinking abilities.The disease usually appears in a person’s early thirties or forties.Early signs include depression, poor coordination, irritability, and trouble learning new information. As the disease matures affected people may have trouble swallowing, speaking and walking people also experience changes in personality and reasoning people who have the adult onset form of the disease usually live for fifteen to twenty years after showing signs. The gene that is related to the disease is a mutation that occurs in the HTT gene. The HTT gene provides instructions for making the protein huntingtin which plays...
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...According to The Huntington's Disease Society of America Huntington's disease is an inherited disorder that results in the progressive loss of both mental facilities and physical control. The symptoms of Huntington's disease can range anywhere from behavioral issues such as mood swings or a total change of personality to loss of coordination or even trouble swallowing. “Huntington's disease is caused by inheriting a mutation in The HTT gene” (Genetics Home Reference). At this point in time there is no cure for Huntington's but there has been some progress in slowing down the disease. “People who are diagnosed with Huntington's disease don’t usually have any signs or symptoms until they are between the ages of thirty to fifty” (HDSA.org). In some very rare cases the symptoms can start in childhood. This type of the disease progresses much faster and the teenager or child who gets it usually only lives ten to fifteen years after being diagnosed. “In the early stages of Huntington's the most common symptoms are poor memory, depression, lack of coordination, and...
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...Huntington's Disease Essay: By Jasmine Mongeon Huntington's disease is an inherited disease characterized by the degeneration of the central nervous system, which ultimately results in abnormal movements and mental deterioration. The genetic abnormality consists of expansion in the trinucleotide repeat CAG in the HD gene on chromosome 4, which codes for the normal protein huntingtin. The HD gene is an autosomal dominant condition which means that only one parent must have the gene in order for a child to inherit HD. Huntington's disease results in abnormal movements and mental deterioration. Each child of an Huntington's disease parent has a 50% chance of getting the Huntington's disease. If the child does not inherit the Huntington's disease...
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...Huntington’s disease is an inherited disease that causes a breakdown of certain neurons in the brain. Huntington’s disease is a neurodegenerative disorder which causes involuntary movements, emotional disturbance, and cognitive impairment. “Huntington’s disease (HD) is caused by an autosomal dominant pathogenic mutation, resulting in an expanded stretch of 36 or more glutamine residues in the N terminus of the huntingtin (HTT) protein (1)” (Weiss et al., 2012, p.1 ). People who have Huntington’s disease are born with the faulty gene; however, symptoms typically don’t appear until the person reaches middle age. Although in most cases people with HD don’t start to experience symptoms until middle age, some people may start to experience them...
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...Huntington's Disease Huntington’s Disease is an inherited disease that breaks down the nerves of the brain. This disease can affect the individuals functional abilities. Most people with this disease start getting symptoms in their 30s or 40s. When this disease affects people before the age 30 it is called “ juvenile Huntington’s disease”. The causes of Huntington’s is due to a inherited defect in a single gene. Cystic Fibrosis Cystic Fibrosis is a genetic disease that causes lung infections and makes it difficult for the individual to breathe. This disease causes sticky build up of mucus in lungs, pancreas, and other organs. Cystic Fibrosis is a genetic disease, the individuals have 2 copies of defective CF gene Down's Syndrome...
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...TITLE: Perspective: The Therapeutic Potential of Deep Brain Stimulation in Huntington's Disease AUTHORS: Sean J. Nagel, Andre G. Machado, John Gale, Darlene A. Lobel, Mayur Pandya ABSTRACT Huntington’s Disease (HD) is an incurable neurodegenerative disease characterized by the triad of chorea, cognitive dysfunction and psychiatric disturbances. Since the discovery of the HD gene in 1993, the pathogenesis has been outlined, but to date a cure has not been found. Disease modifying therapies are needed desperately to improve function, alleviate suffering, and provide hope for symptomatic patients. Deep brain stimulation (DBS), a proven therapy for managing the symptoms of some neurodegenerative movement disorders, including Parkinson’s...
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...Benjamin Franklin once said, “An investment of knowledge pays the best interest.” The more knowledge people have, the more it will benefit them. In this case, genetic testing for Huntington’s Disease provides the knowledge that might save lives. Huntington’s is a disease that affects the physical, cognitive, and emotional attributes of the human body. (3) It causes progressive deterioration of the brain cells. (7) It forms in the brain, specifically in the basal ganglia. The basal ganglia controls movement, emotion, and thought organization. The disease destroys the cells that are in that part of the brain. Huntington’s Disease is simply caused by genes. (2) The mutation will show up on chromosome 4 and has repetitive nucleotide triplets that...
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...O Progressive, degenerative, inherited neurologic disease characterized by increasing dementia and chorea (jerking, rapid, involuntary movements) and speech problems O Decrease in acetylcholine, resulting in relative excess of dopamine O Excess dopamine causes the excessive uncontrolled movements O Onset at about 40yrs of age O If there are more genetic mutations found on the affected chromosome, clinical manifestations can occur even earlier O Autosomal Dominant O 50% chance of passing O Huntingtin (HTT) found on Chromosome 4 O Genetic testing looks at the amount of times “CAG” is repeated in the coding for glutamine O In Huntington’s “CAG” is repeated over 36 times when normally, it is only repeated 10-35 times O Magnetic resonance imaging...
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...Huntington's: The Anticipation that Kills After doing research on the effects of the disorder Huntington’s disease, it is easy to understand what a disease like Huntington’s will do to an individual way of life. Imagine being thirty years old with a good job, a loving spouse, maybe a couple of kids and an all-around pretty good life. Then imagine one day your boss writes you up and sends you home because he/she suspects you of being intoxicated. A person in this situation could, in months and years to come, learn from a simple blood test that he/she is the victim of a genetic disorder called Huntington’s disease. The ramifications of this illness are endless and affect not only the individual with the disorder but entire families and communities as well. At this time there is no cure or even any significantly effective treatment. However, as with many genetic disorders, research is being done in in this day in age that may promise to one day lead us to such treatment or cure. Huntington’s disease is a neurodegenerative or genetic disorder that affects muscle coordination and some cognitive functions, typically becoming noticeable in middle age. It is much more common in people of Western Europe descent than in those from Asia or Africa. The disease is caused by dominant mutation on either of the two copies of a specific gene, located on chromosome 4. The Huntington gene normally provides the genetic code for a protein that is also called Huntingtin. The mutation of the Huntingtin...
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...Running head: HUNTINGTON’S DISEASE Huntington’s Disease Bradley Amos St. Ambrose University March 21, 2011 Huntington’s Disease Huntington’s disease is a devastating and progressive neurological disorder that results primarily from degeneration of nerve cells deep in the center of the brain that waste away (PubMed Health, 2011). According to National Institute of Neurological Disorder and Stroke (2010) more than 15,000 Americans suffer from this debilitating disease. Nearly all people who develop Huntington’s disease will die within 10 to 30 years from onset. This disease does not show bias to any sex, ethnicity or race. The pathophysiology of Huntington’s disease is inherited as an autosomal dominant trait with high penetrance (Jarvis, 2008, p.360). The symptoms of Huntington’s disease are abnormal uncontrollable movements and personality changes (Jarvis, 2008, p.360). As the disease progresses so does the severity of the symptoms. It is a genetic disease that is passed on from generation to generation. A person can be genetically tested to determine if you have the gene for this disease. To date there is not a cure for this rare debilitating disease (Medline Plus, 2009). Definition of Disorder Huntington’s disease was named after an American doctor George Huntington in 1872. Before it was named by Doctor Huntington it was called “chorea” which means choreography in Greek. It was named so because people affected by this...
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...Huntington’s Disease Huntington’s Disease is a progressive neurological disease generally genetically inherited (Frank, 2014). This disease has an occurrence in all racial groups, however there is a greater concentration in those of northern European decent. This disease is rare, however is devastating to those afflicted with this disease as well as their family members (Novac & Tibrizi, 2010). Less than a month ago a very close friend of mine revealed that his father has been officially diagnosed with Huntington’s disease and that he now feared for himself that we will eventually be diagnosed with this disease. His father started having symptoms 11 years ago, however was diagnosed 8 years ago. He also watched his grandmother suffer through Huntington’s Disease throughout his childhood. He recently became engaged and it was in my conversation with him that I thought it was too soon and he was too young that he revealed his family history with Huntington’s disease. It was his concern for his father and his own future was my motivation for searching Huntington’s Disease. I hoped to gain insight that I can share with my friend if even just to be a sounding board with a little more context. History & Symptoms of Huntington’s Disease Huntington’s Disease is named for George Huntington who wrote and shared one of the most initial detailed accounts of the symptoms of this disease. Although other individuals have ben noted as documenting various aspects of what is now...
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