Huntington's Disease Research Paper

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

The motor symptoms and signs found in Huntington’s disease can affect both males and females it is more dominant in a population where there is a double chromosome that causes the autosomal gene. Any person that is affected had a greater risk because it inherited from their parents (Van Walsem M.R, 2016).

Every cell within the body contains all of these 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 and is identified by 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 “CAG repeats,” is associated with Huntington’s disease, however, there are cases with people not afflicted having up to 39 “CAG repeats,” (Appai-Kubi). The number of repeats generally increases as the gene is passed on through families. An increase number of “CAG repeats,” generally means earlier development of symptoms (Sheth). ). Huntington’s disease is inherited through an autosomal dominant pattern; meaning that whoever inherits the faulty gene will definitely develop the disease during their lifetime (Genetic Science Learning Center). A parent with the Huntington’s disease mutation has a 50% chance of passing on the gene for the disease to their children (Genetic Science Learning Center). A small number of cases (1 to 3 percent) occur without family history of Huntington’s disease (Schoenstadt).

The pathology of Huntington’s is a progressive, fatal, neurodegenerative disorder that is the result of an inherited autosomal dominant trait. Huntington’s is caused by an expanded huntingtin (HTT) gene that is located in the arm of chromosome 4, that encodes an abnormally long polyglutamine repeat protein. This mutation that was found about 20 years ago, we still do not have further knowledge on the mechanism in which the abnormally long polyglutamine repeat in the HTT protein worsens the nerve cells in specific brain region. Researchers find it challenging since the HTT protein prevails in all parts of the brain. Though, understanding the genetics of HTT helped investigators develop animal and cellular models to gain a closer look at the pathogenesis of Huntington’s. This investigation has led to the knowledge that mutated HTT is toxic to striated neurons, and that is related to some of the hundred proteins that networks with HTT. Though, as much of a help as animal and cellular models are, it will still not be sufficient enough to reveal an effective treatment. The conclusion from the animal and cellular models is that they need to be validated by examining and running tests on human autopsy tissues from prior Huntington’s patients, as well as controlled subjects.

Huntington’s chorea, or more commonly known as Huntington’s disease (HD), is a neurodegenerative disorder that affects both men and women. Although previously thought to be a relatively rare disease, new research discoveries show that it’s actually more common than not; while the onset of symptoms typically occurs in a person’s 40s and 50s, research has also shown that individuals in their 70s, 80s and even 90s have enough repeats in the HTT gene to develop mild HD symptoms. (Samson, 2016) Through the selective degeneration of neurons and with the loss of neurons from the striatum and cerebral cortex, Huntington’s disease affects the nervous system by impacting movement, cognitive abilities, as well as neuropsychiatric symptoms. Unfortunately

For our gene and protein lab, my group decided and I to research the deadly, yet rare, disease, known as Huntington's disease. Huntington's disease is an extremely rare condition when your nerve cells in your brain break down overtime. Also, “HD” has a treatment that could aid someone, but it unfortunately cannot be cured. Huntington’s Disease typically begins when someone is thirty or forty years of age and can last years to a life time.

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 a chronic and fatal neurological disorder caused by a trinucleotide repeat. It is caused by a genetic defect on chromosome four that causes a CAG repeat. When the number of repeats exceeds a certain amount, a neurological disease results. In a normal person, this section of DNA is repeated 10 to 35 times, but in a person with Huntington’s disease it is repeated 36 to 120 times. The disease is genetic and is passed down in families. If one parent has Huntington’s disease offspring have a 50% chance of getting the disease. The average age of onset is 40 years and the disease progresses over 10 to 25 years.

Huntington’s Disease (HD) is defined as being a progressive neurodegenerative condition which can be characterized by cognitive, motor and behavioral problems (Mestre, Ferreira, Coelho, Sampaio, & Costa, 2009). It is an autosomal dominant disease, meaning that if a child’s parent is affected by HD, there is a 50% chance the child will be affected as well. Huntington’s disease (first known as Huntington’s Chorea) was first documented and studied in 1872 by George Huntingon, MD (Aubeeluck & Wilson, 2008, p. 146; Bourne, Clayton, Murch, & Grant, 2006). Almost 150 years later there is still little known about this disease, which contains no cure in sight.

Huntington’s disease, or HD, is a genetic neuro-generative condition that is characterized by progressive dysfunction in motor, cognitive and behavioral abilities. There are about 4-10 cases per 100,000 throughout the world, which makes it one of the most prevalent genetic neuro-generative disorders. Huntington’s disease is a dominant gene mutation that occurs in the huntingtin gene. The result is an excessive repeat of the nucleotide triad cytosine-adenine-guanine (CAG) and causes damage to neurons. The striatum of the brain and the cerebral cortex are most affected by the gene but other parts of the brain atrophy as well. Typically, onset begins around the 4th decade of life although an early onset form can occur before the age of 20.

Huntington's Disease is the result of an increase in repeats of a tri-nucleotide (cytosine-adenosine, guanine, or CAG) sequence on chromosome 4p16.3.

Huntington disease is known to be an inherited disease which is caused by a gene mutation called HTT. A child of a parent with Huntington disease carrier a chance of 50% of having inherited the disease. Huntington disease Symptoms usually begin from early 30’s to 50’s. These symptoms are loss cognition, uncontrolled movements and behavior changes. Since there is no cure for this disease yet many approaches such as Preimplantation and prenatal tests have been made to manage this fatal disease.

The mutation on the HTT gene is on a segment of the DNA; the sequence on this part of the gene is called CAG trinucleotide repeat. The mutation causes the CAG sequence to be repeated an abnormal amount of times. In a person without the mutation, the CAG sequence is repeated 10 to 35 times on the gene. In a person with Huntington's, the CAG sequence is repeated 36 to 120 times; people who have 36 to 40 repeats

The Huntington disease is a type of disease people suffer when they gradually got older, around 30 to 40 years old. It provides instructions for making proteins. The function is unknown, although it plays an important role in the nerves cells, in the brain. HTT mutation causes the Huntington disease and involves a DNA segment known as a CAG trinucleotide. Unfortunately there is no cure for the disease but drugs, physiotherapy and talk therapy can help manage some symptoms.

This disease is an inherited brain disorder with a dominant allele. Therefore, if one parent has this brain disorder then there is a 50% chance that it will be inherited to their children. Huntington disease is the death of brain