Huntington’s disease is caused by genetic mutation. The mutation occurs on the HTT gene; the HTT gene contains the DNA used to code for a protein called Huntingtin. The HTT gene is located on the shorter arm of the 4th chromosome. The protein, Huntingtin, is primarily used in neurons in the brain and is also found throughout the body.
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
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 (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.
neurologist named Geoge Huntington during the late 19th century. HD is a brain disorder that greatly affects a person's ability to think, speak, and move functionally (MedicineNet). The causes behind this disease were uncovered in the basal ganglia, a nuclei group linked to the thalamus, the center of the brain responsible for sensory and motor relay. The basal ganglia obtains the same control of physical movement, but is also responsible for human emotion and cognitive ability. In HD, there is a mutation on chromosome 4, which, without dysfunction, holds over 1,000 genes and creates over 186 million copies of different DNA building materials, or base pairs (Mandal, Ananya). DNA is shaped like a spiral ladder and creates different base pairs out of adenine, guanine, cytosine, and thymine. The combination of these bases determine a cell's function. Chromosome 4 creates CAG; however, all base pairs come with a maximum limit of copies that it can create. In HD, CAG is endlessly repeated, which then encodes the protein, huntingtin (Mandal, Ananya). There are results in damage of the basal ganglia, and, eventually, overall neurological
Huntington’s Disease is caused by a defective gene inherited from the parents, carried on chromosome 4. It is responsible for making ‘huntingtin’. Basically, it means that certain proteins needed to make brain chemicals are unable to make them in your brain as normal. This leads to damage and the death of some brain cells, called neurons, in the basal ganglia and the cortex, located in the brain. This leads to Huntington disease, and a buildup of dopamine, a chemical that is produced to make you feel good, contributes to the problem.
In addition, Huntington disease is one of the wide variety of disorders that are caused by trinucleotide repeat where the repeat section’s length changes in such a way that it leads to a larger size than the normal one (Quarrell, 2008). The Huntington gene is mainly located on the short side of chromosome 4. Additionally, this gene contains some level of 3 main DNA bases (Hayes & Reichsman, 2009). As such a variety of
Huntington’s disease is a fatal genetic disorder which causes brain nerves to degenerate and die. The disease deteriorates a person’s physical and mental abilities at the age of 30 to 50. Most people who suffer from Huntington’s die before they are in their 50s. A child has 50% chance of inheriting Huntington’s if one of their parent suffers from Huntington’s disease. In early stages of Huntington’s disease, the patient will feel small coordination issues and irritable of depressed mood. In the middle stage of Huntington’s the coordination issues become more prominent and involuntary movements occur. It might be difficult to swallow or talk. Patients also experience trouble during problem solving. In the final stage of the disorder the patient
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.
Huntington’s disease is a progressive neurodegenerative disease that causes uncontrolled physical movements and mental deterioration. Huntington’s destroys the brain leading to changes in personality and even cognitive functioning. A faulty gene is responsible for this disease. This faulty gene generates a malformed protein which is accountable for the immediate damage. This damage leads to a slow decline and eventually death. Unfortunately there is no cure and only minor treatments to manage
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.
Furthermore, the disease is caused by an HTT gene that has a mutation. The gene supplies instruction for the protein. However, the function of the detrimental disease is currently unknown, but it creates life changing effects on people’s neurons and nervous systems that are found in the brain. The gene,
Huntington’s disease (HD) is a late-onset, usually between 35 and 50 years old, neurodegenerative disorder prevalent in 3-7 per 100,000 people of European ancestry1. The disease, inherited in an autosomal dominant pattern2, is characterized by motor disturbance, intellectual decline, and psychiatric manifestations3. The disease is difficult to detect at an early stage of an individual’s life since its symptoms appear in the third to fifth decade of life. To better understand the disease, investigations were done to identify the gene that is linked with the disease. The researchers in this paper relied on the polymorphic protein markers or enzymes which they excluded in the 20% of the genome. However, the lack of additional markers made it impossible to test the remaining part of the genome.
Huntington’s disease is caused by the mispelling in the HTT gene for a huntingtin protein. Involved in the HTT mutation that causes Hungtington’s disease, the CAG trinucleotide
Huntington’s Disease (HD) is a genetically inherited, progressive, autosomal dominant, fatal neurodegenerative disease that’s characterized by behavioral difficulties, decline of cognitive abilities, abnormal involuntary movements (chorea), and muscle spasms (dystonia) (1). These characteristics help diagnose patients with HD, but a genetic test can be done to prove that one has the disorder. The gene responsible is that which produces the huntingtin protein in chromosome 4; the defect causes extra repeats of the chemical code (2).
Huntington’s disease (HD) is monogenic neurodegenerative disorder characterized by motor, cognitive and psychiatric abnormalities. It consists of two types: adult onset and juvenile onset. The most common form is adult onset in which a person’s symptoms usually occur between 35-44 years old with a mean survival time of 15-20 years after onset, while the less common form known as the juvenile form begins in adolescence with a mean survival time of 10-15 years after onset.1
Huntington’s Disease is a rare autosomal disease that first originated in northern Europe. It is a progressive degenerative disease that affects about every 5 in 100,000 people. The offspring of the parent who has suffered from this disease has a 50% chance of inheriting Huntington’s disease as well. Symptoms usually being around the age of 35-40 years of age. Huntington’s Disease symptoms begin gradually, but with detrimental effects. In the beginning stages of Huntington’s Disease symptoms include personality changes such as depression and a short temper, restlessness, and choreiform. Choreiform is involuntary moment that is rapid and repeated many times.