huntington s disease essay
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Huntington disease is a form of an inherited neurodegenerative disorder. The disease appears pursuing the mutation of just one of a person’s two clones of a Huntingtin gene which is autosomal. This kind of gene is generally found in most individuals and its function is always to code for any protein which is known as huntingtin. Following the mutation of this gene, a different type of protein is formed and this healthy proteins gradually ruins some of the brain parts ultimately causing their death (Huntington World of Canada [HSC] 16).
The afflicted parts include putamen, caudate as well as the cerebral cortex although this provides the disease progresses.
The gene that is responsible for causing this kind of disease is usually dominant and this means that for any child in whose parent provides this disease, the chances of inheriting this disease is 50% (HCS 15). The disease is not sex-linked and this means that both genders have the same gift of money risk. Though this disease can affect kids, mostly the symptoms for this disease appear at central age which is usually around 30-45 years but may also appear in 70’s (HCS 9).
Just how an individual gets exactly afflicted with this disease varies between individuals typically all people exhibit similar symptoms.
These types of symptoms happen to be classified into three: mental, physical, and cognitive symptoms and they generally vary depending on the stage from the disease (HCS 8). The stages will be classified into three with the first level being early stage which can be characterized by delicate changes in intellectual ability. Through this stage, individuals who are affected encounter difficulty in recalling information, in coping with unfamiliar situations along with coordinating routine matters (HCS 8). Can make the affected individuals forgetful and unable to always be attentive to specifics.
The emotional symptoms linked to this level are also not well obvious and include depressive disorder and becoming easily irritated (HCS 8). The physical changes viewed at this stage consist of involuntary actions which are showed in sort of fidgeting and lots of restlessness, and difficulty in jobs that the specific has been doing regularly such as writing (HCS 9). The next level is known as the intermediate level and this is definitely associated with evident exhibition of involuntary moves. For instance drying,dry-curing of the neck and throat or hands or legs. This decreases activities including swallowing, speaking and going for walks making the individuals to look drunk (HCS 10).
The very last stage is a advanced stage and this is generally characterized by rigidity and decreased involuntary actions. At this point the individuals are unable to do the normal daily activities and in addition they experience problems in conversation and swallowing and in most all cases the people have lost excess weight (HCS 10). It is important to notice that the symptoms exhibited simply by children are challenging to diagnose because they differ from individuals exhibited by simply adults (HCS 20). At the moment there is no remedy for the condition but studies ongoing. The search for this kind of disease’s get rid of is focused on genetic research.
Following the breakthrough of the Huntington gene, a whole lot of studies have been completed (Miller). The gene provides a section that is responsible for glutamine encoding. This kind of code offers its bottom pairs within a series of CAG repeats which can be cytosine, adenine and guanine respectively. In Huntington’s disease, these repeats are mutated in such a way that they look in abnormal numbers. In development of treatment, expression in the gene can be targeted with promising prescription drugs being those that target antisense and RNA interference (Miller).
Addition of another normal gene in individuals have already been considered to increase the amount of normal healthy proteins coded for but the problem with this approach would be that the abnormal proteins produced will still be detrimental to the mind (Miller). One common problem in the search for genetic input lies in the presence of the normal gene which should not really be interfered with. This matter limits application of RNA disturbance method since it involves silencing of both mutated and normal genetics though research has shown the potential of silencing only the mutated gene using a technique that is allele specific (Miller).
Though Huntington Disease is located all over the world, several isolated foule especially those in whose origin can be Western The european countries have a better prevalence compared to other populations (Huntington’s Outreach Project pertaining to education at Stanford [HOPES]). Among these types of, the frequency is predicted to be 5-7 cases in 100, 000 individuals but also in some cases the prevalence can be as high while 700 instances in 75, 000 people as is seen with masse in Venezuela (HOPES). This kind of disease is definitely rare in a few regions including Japan, The african continent, and Finland where the prevalence is about you case per 100, 500 people (HOPES).
For most with the cases found in the world, their very own origin is normally traced to western countries and it is thought to have propagate through migrants (HOPES). The in prevalence rates amongst different foule is related to variations in genetic risk factors. For individuals whose loved ones have had Huntington’s disease, they can take a innate test to determine if they are at risk. However , a large number of people may not rather take the test due to consequences.
To start with, insurance companies consider covering this sort of people too risky and get charging substantial premiums for people with such situations or reject them cover altogether (Boughman 1). Yet another thing is that several employers have already been discriminating against their staff and potential employees that have this problem (Boughman 1). But this problem have been solved by passing from the Genetic Info Nondiscrimination Take action which forbids discrimination based on an individual’s innate information (Boughman 1).
Additional social complications involve marital life stability following diagnosis due to the fact that the children is also affected along with change of roles (HCS 26). To sum up discussion it is clear that Huntington’s disease though unusual, it has been creating concerns among social and medical fraternity. This is important as the social concerns have got led to rendering of the Act against discrimination and this is going to in turn ensure that the medical researchers who will be able to get even more participants in their projects and this increases expectations of getting a remedy.