Huntington’s Disease
A Comprehensive Overview on the Pathophysiology, Diagnosis, and Treatment
DOI:
https://doi.org/10.58445/rars.1721Keywords:
neurodegenerative diseases, genetics, huntington's disease, biology, autophagy, mitochondrial dysfunction, trinucleotide expansions, aavs, clinical trials, protein aggregationAbstract
Huntington's Disease is a rare neurodegenerative disease that results in nerve cell damage, causing difficulty in performing motor movements. The pathophysiology of HD is very nuanced and unique, as it involves a specific type of mutation in the Huntingtin Protein. This paper will focus on the mechanisms, diagnosis, and treatment of Huntington’s Disease (HD). It will delve into the basics of genetic diseases, covering topics such as DNA replication and repair, genetic mutations, and an introduction to HD. Then there will be an extensive review of the pathophysiology of HD, going over trinucleotide repeats/expansions, the relation between the number of repeats and the age of onset and severity of the symptoms that a patient with HD presents, and the way in which processes such as autophagy and mitochondrial function get impacted as a result of HD. Furthermore, the diagnosis of HD will also be discussed, going into the challenges of diagnosis, differential diagnosis, and methods to test for Huntington’s Disease. Along with diagnosis, prognosis will also be mentioned, where the paper will delve into the long-term outlook of HD in terms of survival rates, the number of cases of HD, and the overall course of the disease. As HD is a very rare genetic disorder, it has no cure and a 0% survival rate. Therefore, a key aspect of this paper is the focus on the future of HD treatment, where numerous ongoing treatment implementations will be discussed and extensively analyzed in order to determine the most effective treatments for HD.
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