Huntington 's Disease ( Hd ) Essay

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 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.

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 (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

At present, there is no cure for the disease, but dynamic progress has been made as researchers explore this illness. HD is inherited as an autosomal dominant condition. In March 1993, scientists realized that HD is caused by a mutation in a gene located on chromosome 4. This gene has a unique genetic sequence for CAG (cytosine-adenine-guanine) and codes for the amino acid glutamine, a building block for the huntingtin pr otein. Normal individuals have this sequence duplicated from 11 to 40 times in their genetic coding without having symptoms of HD. However, individuals with the disease have from 40 up to 100 repeated CAG segments. Juvenile Huntington's Disease occurs wit h 60 or more repeats, linking the longer chains of CAG sequences to earlier and more aggressive onset of the disease.

Genetic testing is used to determine the risk of a patient or patient’s offspring developing genetic diseases. This is done with DNA sequencing in adults and preimplantation genetic diagnosis (PDG) on embryos. These methods of genetic testing are effective means of determining the likelihood of developing diseases such as Huntington’s disease, a disease resulting from trinucleotide repeat on chromosome 4p16.3 that causes uncontrollable muscle movement and decrease in cognitive function. However, they only determine probability, which isn’t an entirely reliable means of knowing whether or not symptoms will arise.

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

If Melissa’s mother is Huntington’s disease positive heterozygous and her father is Huntington’s disease positive heterozygous there is

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.

Huntington's disease is inherited in an autosomal dominant fashion. The child of an affected parent has a 50% chance of inheriting the disease. The discovery of the HD gene in 1993 has made it possible to test at-risk individuals for Huntington's disease before symptoms occur.

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

Huntington’s disease is a progressive, degenerative disease like Alzheimer’s and Parkinson’s. It is characterized by tremors, uncontrolled movements, emotional issues, and cognitive problems or loss of the ability to think properly. The mutation of the huntingtin protein causes brain cell death that directly influences mood changes and mental problems. Diagnosis of HD uses different methods to determine HD symptoms and mutation of the relevant protein.

Huntington 's disease is an inherited neurodegenerative disease that is caused by a mutation on the HTT gene. It typically effects persons in their third to fifth decade of life and can be passed onto their children. Neurons in the brain waste away or degenerate in different areas causing the characterizing symptoms, such as dance-like movements and mental decline. Diagnosis and prognosis can be devastating to both individual and family. However, there are genetic tests that can help to predict the probability of developing symptoms of the disease. There is no cure for this debilitating disease; only symptom control and maximization of comfort can be prescribed until future research finds a cure. This paper will review origins and symptoms, in addition to treatments and future treatments.

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 disease is defined by the autosomal pattern that is in inheritance with high penetrance of high proportion of the population that has the gene that advances the disease. It’s typical that Huntington disease is caused by the loss of neurons nerve cells in the brain (Van Walsem M.R, 2016).