Reducing Huntington's Disease

Huntington’s disease destroys the organs that carry the functions of the central nervous system. Kalat (2013) states, “Huntington disease (also known as Huntington disease or Huntington’s Chorea) is a severe neurological disorder that strikes about 1 person in 10,000 in the United States” (A.B. Young, 1995, p. 258).Individual’s develop the symptoms in their middle age, but even if it is a rare disorders juveniles as well as children before the age of ten can develop the disease. Huntington’s disease is hereditary disease that is passed on from a parent. Huntington’s disease is of the lack of the chromosome 4, if one of the parents carries the gene, they can pass that gene to their

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.

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

Huntington’s disease is a hereditary brain disorder that is progressive in neurodegeneration; which means, there is a loss of function and structures of one’s neurons. In the long run it results in the loss of both mental and physical control. The disease affects muscle coordination, cognition and behavior. It used to be known as Huntington’s chorea because it is the most common genetic disease that is the cause of abnormal twitching. Huntington 's has an intense effect on patients, as individuals gradually lose the ability to reason, speak and swallow. Also, motor symptoms, which affects in problems with walking, (Mayo Clinic Staff, 2011).

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 disease is caused by a faulty gene. They are made up of DNA and packed onto strands called chromosomes. We have two copies of all our genes, so our chromosomes are in pairs. We have forty six chromosome’s which is twenty three pairs. The faulty gene that causes Huntington's disease is found on chromosome number four. The normal gene produces a protein called huntingtin but the faulty gene contains an abnormal area of what are called CAG repeats. This area is larger than normal and it produces a mutant form of the protein huntingtin. Cells in certain parts of the brain especially the basal ganglia and parts of the cortex are sensitive to the effects of the abnormal huntingtin therefore this makes them function poorly and eventually

Huntington’s disease is an inherited disorder of the central nervous system, and the degeneration of nerve cells in the brain, which causes the brain to deteriorate.

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 is an autosomal dominant disease, meaning that a child only needs to inherit one copy of the gene from his parent to develop the disorder. Rarely, an individual can develop the disorder, despite not having a parent carrying the gene. Discovered in 1993, the HTT gene provides information in synthesizing a protein called huntingtin (Johns Hopkins). The HTT gene is located on chromosome four. Individuals with Huntington’s disease has mutations in their HTT gene on the CAG repeat sequence. The CAG mutation leads to abnormally long huntingtin, which cuts into shorter fragments. These toxic fragments will clump and accumulate in neurons and disrupt their normal function. Eventually, these neurons will die (NLM).

Huntington’s disease (HD) is a rare and fatal disease known as a polyglutamine neurodegenerative disorder effecting only 4-10 per 100,000 people of European decent (Driver-Dunckly et. Al 2007). This means there is a problem with the trinucleotide that codes for glutamine, cytosine-adenine-guanine (CAG). In the case of HD there is an extreme overproduction of the CAG repeats in the protein huntingtin. Accumulation of this mutated form of the protein in neurons causes cell atrophy which in turn causes the brain to malfunction. The disease was first described by Dr. George Huntington in 1872, however it wasn’t until 1993 that the cause of the disease was actually discovered (Bertram et. Al 2005).HD is characterized by symptoms effecting the afflicted

Having Huntington's disease if very serious and over time can kill you. Huntington's disease is where your nerve cells in your brain slowly start to die off. When lots of your nerve cells die you get chorea. You’ll have random jerks in movement on the face, arms, neck. You will have a loss of mental function as well. This disease is genetically passed down too. The major cause is the abnormal huntingtin (mHtt) with more than 36 glutamine residues. The mHTT gene gives instructions for creating a protein called huntingtin. The gene's role is in the nerve cells in the brain. The symptoms of Huntington’s disease occur in personality, behavior and mental function. Common symptoms are hallucinations, depression, being irritable, not being able to remember, uncontrolled jerking movements. and loss of balance.

Huntington’s disease is a neurodegenerative disease that is procured from a repeat expansion of CAG in chromosome 4 the Huntington’s gene. “When the number of CAG repeats passes 39 then the disease will inexorably occur at some point in life” (Cepeda). Scientists currently do not know for certain why the cells within the basal ganglia specifically die in Huntington’s patients because the huntingtin protein is present is all cells not just exclusively nerve cells. The normal function of the huntingtin protein is relatively unknown but it is necessary for growth and development and is active throughout the body. “The huntingtin protein undergoes a posttranslational modification, and some events like phosphorylation play a large role in helping

Huntington’s disease can be treated with medications in order to manage the symptoms and make life easier for these patients.

This segment is made up of a series of three DNA building blocks such as cytosine, adenine, and guanine that show up several times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with Huntington disease, the CAG segment is repeated 36 to more than 120 times. An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein. The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington disease.

Huntington’s disease (HD) is an inherited disease that leads to the breakdown of nerve cells in the brain. HD affects a person both physically and mentally. Some symptoms include personality change, depression, forgetfulness, unsteady gait, involuntary jerking, slurred speech, and difficulty in swallowing. HD is considered a late on set disorder, because people don’t show symptoms until their 30’s or 40’s (Mayo Clinic Staff, 2014). HD progressively gets worse and worse and has 3 different stages. The early stage of HD includes changes in coordination, involuntary movements, difficulty thinking through situations, and a depressed mood. In the middle stage of HD, the person will struggle more moving, thinking and reasoning will go down hill quickly and problems talking and swallowing will become worse. The late stage of HD is when it really gets bad, the person becomes fully reliant on someone else and choking becomes a major issue. The person will not be able to speak or walk in the late stage. Medications can be taken to help manage symptoms, but treatments can’t stop the mental and physical breakdown of the person. Speech therapy can help with speech and swallowing and occupational therapy can be helpful in learning to deal with movement issues. Exercise is also very helpful (Huntington’s Disease Society of America, n.d).