Huntington Disease - Essay Sample

Introduction

Huntington disease is a continuous health condition that is caused by a slow loss of affected brain cells. The negative health condition is mostly inherited and it starts during adulthood. Presently, normal Huntington condition is a situation that is so dangerous. The disease is usually associated with involuntary body movements with characteristics of dementia and physiological disturbances that make the situations worse. Huntington disease is a family disease which means that the characteristics are dominant in a certain family (Cella, 2016). When one of the parents receives an abnormal gene of the disease, he or she will cause the disease even when the gene of the other parent is okay. In this situation, the parent diagnosed with the abnormal gene has a 50% possibility of passing the gene to the children of that family. In a number of cases, a parent who obtains the mutated gene without having developmental signs of the disease is usually likely to pass the disease to a child. The child may develop a negative health condition and this is very common when the genes are caused down by the father. Huntington's disease occurrence ranges from 4 to 8 persons in a number of 100,000 people. Mostly, these people must have a previous family history of the same condition. However, an estimated 10 % of the people in the family who obtain the condition have zero chances of developing the disease. The disease is about ten more times prevalent in parts of Western Europe people as compared to African and Asian people populations (Goodman, 2018). The condition is also observed in Tasmania being twice often when compared to Australia because there were individual people with Huntington' s condition in Tasmania a number of years ago and the mutation was being passed on. Such a condition observed in Tasmania is called a founder effect of the disease.

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James. 28. No Huntington James sister.

The first description of transcriptional deregulations of Huntington was in human brain cells at the period of early neuropathology (Panas, 2015). Later, the signs of deregulation were noted in pre-symptomatic Huntington disease transgenic mice. Signs of various aspects of encephalin, the P substance, D1 and D2 receptors were presented altered in the specimen of the Huntington disease patients in the tissues extracted for postmortem in the earlier grades that used hybridization. On the same spot, the DNA microarray that was done on Huntington engineering of the mouse shapes made it possible for many genes to be identified and this was the basis for the global understanding of the dysfunctions that are as a result of Huntington disease (Perkins, 2017). From the analysis made and observations reached upon, the components of the neuron structure were proteins, neutral transmitters and a few enzymes became deregulated in the patients' bodies. The observed changes later reproduced in a number of Huntington disease models and also in the patient's HD factors. When putting together, the changes found that there is a transcription that lied in the neuron-degeneration instead of a specified reduction of all RNAs affected neurons.

The remodeling of chromatin is beyond the genome. A genome is a molecular mechanism that houses human DNA and thus it could lead to transcription (Reilmann, 2015). There happens a critical translational histones modification which is a group of many basic proteins that are connected with DNA. After finishing the modifications of the electro connections between the field of Histones and DNA, the resulting PTM of the said histones makes a contribution to structures of chromatin which later are allowed to access the transcribed DNA machinery. Particularly, the acetylating of the histones is closely conjoined to the areas that transcription is happening. This is possible during the regulation of certain factors that are foundations of the DNA regions. There are enzymes that act as catalysts in the acetylating of histone. These are histone acetyltransferases. On the other hand, Histone acts as a deacetylating agent that takes part in the catalyzation reversal process in the deactivation reaction. After interacting with various other factors such as CBP, Exp-Htt blocks the intrinsic activities of its deactivation (Tabrizi, 2018). Thus, this leads to the global histones H3 and H4 reduction of acetylating levels that go together with CBP gene regulation and transcription. When the expression of CBP gets exaggerated, there is a reduction of the Exp-hit that is induced toxicity.

In addition, the HTT plays a very direct role in the transcriptional of genes constituted in miRNAs. A study done by a group of Tenese indicated that HTT itself donates to RNA mediation that silences its involvement during the dispensation of bodies. Mouse striatal cells indicate Exp-Htt indicated little P-bodies that decreased the messenger gene that was in charge of silencing the action compared to the untamed example. In the recent publications, there was a provision of the pathogenic task of Exp-HTT RNA whereby the researchers indicated how the gene initiated the small CAG that had simultaneous RNA containing certain neurotoxin commotion. The toxic outcome observed depended on Dicers and Ago proteins, as they were all inhibited by their knock-down. As the initial step, they provide an indication that these sCAGs started the Exp-HTT could add importantly to a new pattern of degeneration that is observable in Huntington disease.

At the first development of the gene testing for the Huntington disease after the analysis of CAG length repeat, various establishments of centers around the United States were observed. These centers were in charge of providing the heritable counseling together with giving of sustainable services that could be used to give prognostic testing that is practiced in a more well-informed approach (Smeeth, 2016). Even if a number of HD testing bodies have a clear listing of centers that convene the normal sets that are set in their protocols, some of the bodies have not yet certified or promoted any future testing center and thus they have no means to watch or adjust how testing is really performed at the centers and the expenses for doing it.

The genetic material test that is performed becomes functional in three medical situations: for predictive testing in a personage who obtains such symptoms that risk being with the gene, for diagnosis suspicion of a confirmed HD and lastly for diagnosing prenatal and PGD.

Predictive testing means that an individual seeks a genetic test so that they are differentiated from the patients who go for medical treatment since they obtain the symptoms. This method would suit James. In countries such as the United States, the testing is mostly asked by a few people who are at risk of Huntington disease (Zuo, 2017). The people who undergo the predictive testing are inclusive of future plans of their marriage, careers, fiancee, and reproduction and they also would want to relieve their anxiety. Since in the current situations there exist no straight checkup benefits from the type of testing, there comes the need of the counselors involved to begin helping the people who request the tests to balance the risks of physiological outcomes due to testing against the benefits that would arise after positive results have been arrived at.

Secondly, there is confirmatory testing that is offered after the analysis of the HD gene that is given after clinically analyzing HD. This method could be advised to Matthew to test his condition. After the realization of CAG repeated expansion in an individual having the HD symptoms that clearly shows the impression from clinicians thus supporting the diagnosis of Huntington disease (Meisel, 2016). If the CAG repeat expansion lacks in an individual who clinically felt to have HD, there should be a fast diagnosis of Huntington disease. Also, there should be a reconsideration of how accurate the diagnosis of the patient's family. Another member of that family might be affected after confirming the molecular diagnosis of HD since there is a presence of CAG genes with one family member. On contrary, it is said that there is no importance for any diagnostic reasons to start performance of a genetic test in every person with the clinical characteristic feature of HD as well as the molecularly confirmed HD diagnosis in a certain family (Morimoto, 2015). However, having a constructive gene examination does not signify that a person has the indicators that lead to the gene. This is determined only by a serious and a clear clinical examination that states that the clinical diagnosis of HD is a must. Using a clinical examination to determine if certain symptoms are not typical in HD is mainly discouraged. When the physician observes a positive gene test, he or she could lead them to a false belief that states that the signs are because of Huntington Disease and thus they stop suitable assessment of its diagnosis or possible actions.

Prenatal testing is also another method used for diagnosing Huntington Disease. The persons or married couples that consider prenatal testing are advised to look for a genetic counselor before pregnancy starts (Pastore, 2018). There are a number of reproduction options to persons that are affected by the disease or those who are at risk of contracting the disease and thus a prenatal test is advised. The prenatal analysis samples of the Huntington disease gene are usually obtained in a number of ways. The methods are sampling of the chorionic villus samples when the pregnancy is at 10-12 weeks, amniocentesis when the pregnancy is at 13-19 continuous weeks. Many couples may also wish to do the preimplantation examination of their fertilized seed. This needs the patients to use productiveness treatments as well as other methods that are accessible at the particular in vitro fertilization facilities.

Although Huntington disease pathogenesis is not yet arrived at with no cure, there are a number of therapeutic options that are availed from treating its symptoms and signs which is aimed at making life better. Despite the treatment of a number of signs and symptoms being there, it is advised not to do that always (Sampaio, 2017). The limitations of the patient in their daily lives are the main determinant of whether or not the drugs to stipulate for any anticipated symptoms. The prescribed drug management is normally given to specific individuals and it is based on specialist opinion and the patient's daily practices. Treating Huntington disease is a process that involves the prescription of drugs as well as giving of non-medication advice.

Chorea is treatable by an agent called dopamine receptor blocker. The most commonly used drugs for its treatment are typical dopamine receptor agent that blocks and also the dopamine agent depletory. The prescription of drugs is different in various countries. Clozapine with olanzapine are usually the atypical narcoleptics. The two drugs have an antichoreatic effect. Clozapine needs white blood cells controlled in the blood and thus, it is less practical that makes olanzapine the most useful drug. The drug comes with reported elevation results which are increased weight and also ant depressing effects. There is a good listing of drug...