Huntingtin: A Genetic Analysis

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Pathophysiology Huntingtin is a protein whose exact function is unknown. What is understood about it though is how important of a part it serves for the nerve cells in the brain (HTT, 2016). When the gene HTT that codes for this protein becomes mutated (mHTT), it causes what is known as Huntington disease (HD). This is an autosomal dominant disorder meaning only a single gene needs to be altered in order to cause this disease (Huntington disease, 2016). If there is one parent affected, each child has a 50/50 chance of inheriting this disorder. The genetic defect is on chromosome 4 and causes the DNA sequence CAG trinucleotide to repeat more than it should. So instead of repeating 10 to 28 times, it repeats 36-120 times (Medline Plus, 2016). …show more content…
This affected mechanism discussed it called Mechanistic target of rapamycin (mTORC) (Lee et al., 2015). This comes in two forms but the one that will be discussed is mTORC1. mTORC1 is a serine-threonin kinase that when activated, promotes protein translation and cell growth in the brain. mHTT causes a genetic defect of deleting a key component that activates the mTORC1 called Ras homolog enrich in the brain (Rheb) and also in the striatum (Rhes). Rhes itself plays an important role against the transfected mHTT cells by providing neuroprotection. (Lee et al., 2015) When mTORC1 becomes inactivated or when Rhes becomes reduced, many interactions becomes disrupted or changed. Specifically though, early degeneration of the striatal occurs. The restoration of mTORC1 activation would improve mHTT metabolic phenotypes and even enact the reversal of striatal atrophy (Lee et al., …show more content…
The methods that go into research are really similar to what is going on in an everyday nursing shift. This showed and reminded me how important it is to understand the pathology of a disease. That is it essential to know about the changes that occurs and how it differs from homeostasis. As a future nurse, I will be encountering many patients with various multitudes of problems and diseases. Prior to taking care of the patients I definitely need to make sure that I have a grasp on the diagnosis. Once I understand this, I will be able to better care of the patient and always be prepared for the worst. What really stood out to me is the process that goes into treatment methods. How difficult it must be to find a universal solution when every body is so different. Too much or too little of anything may be detrimental and I need to make sure I recognize any changes that may be happening before and after I dispense medication. Lastly, the number one thing I can say that I really learned from all this is how crucial it to document. Documentation is how everyone validates what has been done and communicates with each other. Without documenting there would be nothing to this genetics research and nothing about the

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