Huntington’s Disease is a brain disorder affecting movement, cognition, and emotions (Schoenstadt). It is a genetic disorder generally affecting people in their middle 30s and 40s (Sheth). Worldwide, Huntington’s disease (affects between 3-7 per 100,000 people of European ancestry (Schoenstadt). In the United States alone, 1 in every 30,000 people has Huntington’s disease (Genetic Learning Center). Huntington’s Disease is a multi-faceted disease, with a complex inheritance pattern and a wide range of symptoms. There is also much research being done in the field of Huntington’s disease, because as of 2012, this disease is untreatable. THESIS. George Huntington first described Huntington’s disease in 1872, but it was only mentioned to the …show more content…
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
Huntington's Disease is a genetic autosomal disorder which effects the brain. It affects about 1 in 20,000 individuals. The symptoms of the disease do not start to occur until after or around 40 years of age. With the onset of the disease the patient starts to gradually deteriorate intellectually, this deterioration also causes involuntary movements. Scientists have only recently found the section of the gene which causes Huntington's disease, and this is allowed them to devise pre-symptomatic tests. However, a cure for the disease is yet to be found.
Huntington’s disease may be irreversible but it can be treated with proper treatment may slow down the effects of the disease and medical attention. In children who have symptoms of Huntington’s disease, some of the symptoms would be a rapid deteriorating in school performance, lack of swift movements, behavior changes etc...
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 a devastating and progressive neurological disorder that resu lts primarily from degeneration of nerve cells deep in the center of the brain. The condition was first described by George Huntington, a physician in New York, in 1872. Even then, the physician recognized the all-encompassing factors of the disorder when describing it as, "coming on gradually but surely, increasing by degrees, and often occupying years in its development until the hapless sufferer is but a quivering wreck of his former self".
According to aggregation kinetics, the rate of aggregation formation is dependent upon the amount of polyglutamine polypeptides. Aggregates in Huntington’s disease are formed from the mutant huntingtin fragments when the protein is cleaved at the N-terminal. This occurs after a conformation change into a β-sheet conformation. Huntingtin is cleaved by caspase, known for apoptosis, and calpain. Cleavage at caspase-3 sites and inhibited cleavage caspase-6 sites did not produce Huntington’s disease characteristics. Mutant huntingtin proteins contain more active calpains because of the increase in neurotransmitter – glutamate – release, enhancing NMDA-receptor activity. An increased glutamate level on spiny neurons was found to increase apoptosis in nerve cells. There are currently no treatment or cures for Huntington’s disease. However, new therapy ideas are centered on the inhibition of proteolytic cleavage.
4. “Huntington Disease - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/huntington-disease.
Huntington’s disease is caused by a mutation in the gene for a protein called Huntingtin. The genetic mutation results in the building blocks of DNA (cytosine, adenine, and guanine) to be replicated many more times than in an average individual. As a result, Huntington’s disease breaks down brain cells, or neurons, specifically located in the primary motor cortex regions of the brain, but can effect other brain areas
The movement disorders associated with Huntington's disease can include both involuntary movements and impairments in voluntary movements:
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
Huntington 's Disease (HD) is a progressive brain disorder caused by a defective gene. This disease causes changes in the central area of the brain, which affect movement, mood and thinking skills. Nerve cells become impaired, causing several segments of the brain to fail. The disease disturbs movement, behavior and perception the affected people abilities to walk, think, reason and talk are slowly weakened to a point that they eventually become entirely dependent on other people for care. HD is a disease that affects the brain in many different ways. One of the ways the HD affects the brain is that it causes the person who has it to become forgetful and moody. Huntington 's disease also causes a decline in thinking and reasoning skills, including memory, concentration, judgment and ability to plan and organize.
Huntington’s disease is a neurodegenerative disorder that slowly breaks down somatic tissues. This degeneration causes a mass amount of chorea, change in mental functioning, change in behavior, decreased memory, along with other serious psychological problems. Since the mechanism of the disease is still not fully understood, there is no cure for the disease, but there are several therapies and medications available. All of the medication and treatment available only help to manage symptoms; they are just stalling the progression of the symptoms but not the overall 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
In 1983 the Huntington disease gene, discovered as 4p, was the first to be mapped to a human chromosome without any prior indication of the gene location; furthermore, ten years later with the pathogenic mutation identified as a CAG-repeat, an ongoing debate for predictive testing of the disease is