Huntington's Disease Research Paper

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.

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

The HTT gene provides instructions for making a protein called huntington. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain.

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.

Huntington’s Disease is a dominant, autosomal, neurodegenerative disease that results from excess CAG repeats on the human chromosome 4. These CAG repeats code for a protein named Huntingtin, and patients of Huntington's Disease have a mutated form of it. Symptoms begin to appear in one’s middle ages and continue to progress over a span of about 20 years. It leads to loss of mental ability and muscle coordination, as well as increasing one’s vulnerability to depression. Those who develop Huntington’s Disease cannot be cured, but there is treatment to reduce the mental and physical effects. Genetic advancements in both testing and treating Huntington’s Disease have provided hope for families with a history of this disease, but it has

It is a disease that progressively breaks down the nerves in the brain. The genetic mutation that underlies the disease is in chromosome 4. The gene codes for the huntingtin protein, which makes up about 6% of the DNA in cells (Genetic Home Reference). This mutation deals with the trinucleotide repeat of the cytosine-adenine-guanine (CAG) sequence. This sequence repeat can repeat up to 40 times to be considered normal, but after this sequence repeats more than 41 times then it is considered Huntington's disease. Huntington’s protein can form inclusions seen in both the cytoplasm and the nucleus (Suchowersky). These inclusions are correlated with neuronal cell death, which occurs within the nerves. Interestingly, Huntington protein seems to be very important for early development (Suchowersky), but in high concentrations appears to become toxic especially to nerve cells. Overall, Huntington’s disease has a very intense effect on the body and behavior

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

Researchers believe that this specific gene is involved with the formation of a structure called the junctional membrane complex, which connects specific channels in the cells with other channels in the surface of the cell. This complex is involved with charged calcium atoms, which is crucial for transferring signals in cells. Juntophillin-3 is most likely involved with signaling in between neurons in the brain. A specific kind of mutation in the JPH3 gene has been found to cause some symptoms and signs that is alike with those who have HD. Researches have named this condition Huntington Disease-Like 2, or HDL 2. The mutation with HDL 2 increases the size of a DNA segment known as CAG/CTG trinucleotide repeat in JPH3. People with HDL2 have 44 to 59 repeats, and people with 29 to around 43 repeats have are not likely to develop signs and symptoms of this condition. Researchers believe that JPH3 gene produces a changed version of messenger RNA. The altered messenger RNA begins to form clumps in neurons that interfere with normal functions of the cells, and eventually lead to the death of neurons throughout the brain which show signs and symptoms of HDL2 (Huntington disease-like

Envision a life that is completely normal, walking and talking, running and playing, driving. However, then life begins to change. The person starts to stutter when speaking. Walking becomes difficult as the person trips over their own feet with jerky movements and even falls. Eventually, the ability to walk disappears and a wheelchair is the norm. No more running, playing, or driving. Balance and memory problems will appear in due course. Subsequently, even eating may be complicated leading to the possibility of a feeding tube. Loss of physical and mental abilities will progressively become worse. Ultimately, a long-term care facility may be in the future. This is the progression and life of a person with Huntington’s

Huntington’s disease occurs from acquiring a defective gene IT15 found on chromosome four. A typical copy of this gene yields the protein huntingtin. However, when the defective gene is bigger than usual, it yields huntingtin in a larger quantity. The etiology becomes fickle when reasons concerning why this defective protein damages the portion of the brain that administers movement. Scientists reveal that the reasoning is due to a miniscule protein called Rhes, which is found in the brain portion that governs movement. Overall, the mutant protein huntingtin causes Huntington’s disease and the defective protein Rhes contributes, however more research and testing is needed to explicate how the Rhes protein augments the pathology. The pathology entails progressive degeneration of the spiny neurons within the basal ganglia, chiefly the putamen and caudate. As the disease advances, neuronal loss ensues in the

Huntington’s disease is a hereditary brain disorder that affects people all over the world. If your parent has this disease, there is a fifty-percent chance that you will develop it at some point in your life. Huntington’s disease is caused by a defect in the dominate gene called huntingtin. This defect is caused by a part of DNA called CAG repeat. Normally the huntingtin gene is repeated about ten to twenty-eight times, and plays a major role in brain development. When a person has Huntington’s disease the huntingtin disease repeats anywhere from 36 to 120 times. When the gene repeats this much the elongated proteins separate into smaller pieces and collect neutrons, disrupting the normal cell function. This effects the parts of the brain

According to Cunha, (2010) article Huntingtons Disease, there is no treatment to stop Huntington’s disease. The physicians may prescribe a lot of medication to control the emotional and movement problems. The U.S Food and Drug Administration approved tetrabenazine in August 2008 to treat the HD making it the first drug approved in U.S to treat the disease. To help reducing the choreic movements and help to control hallucinations, delusions and violent outburst, use Antipsychotic drugs such as haloperidol or clonazepam. However, the Antipsychotic are not prescribed for other form of muscle contraction called dystonia associated with HD that can worsen the condition causing stiffness. Also, it have a severe side effects including sedation so it should take in lowest doses. Physicians may prescribe fluoxetine, sertraline, nortriptyline for depression. Tranquilizers help to control anxiety and lithium may prescribed to severe mood swings and pathological excitement. Some individuals with HD need medications to treat the obsessive-compulsive. Other drugs used to treat symptoms of HD have side effects such as fatigue, restlessness and hyperexcitability.

A disease that causes a person to lose control of basically all of their functions is a very serious problem. Huntington’s Disease causes a person to over time lose control of their functions, including cognitive and motor functions. The disease is named after a man named George Huntington in 1872. He discovered that this was a hereditary disease. In the late 20th century, another group discovered the specific gene that causes Huntington’s. It was found that the 4th chromosome is the gene that mutates to cause Huntington’s. This disease is not a very common one, resulting in approximately .003-.007 percent of the population.

The first part of the article is about Huntington’s Disease. This is a genetic disease that you can not do anything about, even if you know you have it. The disease can spread genetically to your children and generations past them. The next part is about family concerns. Family around you might start to ignore you, and you will start to help problems socially. These conditions can cause guilt and depression for many people. There are also privacy concerns about knowing your genes.