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  • Essay / Huntington's disease or Huntington's chorea - 564

    Huntington's disease, or Huntington's chorea, is a progressive neurodegenerative disease of the central nervous system that is genetically inherited by an autosomal dominant trait. (Webster) It is caused by a mutation in the huntingtin protein where the CAG repeat region is elongated. CAG is responsible for encoding glutamine. This mutation causes many devastating effects and is ultimately fatal. There is no known cure. The disease results in many symptoms, including chorea, which is characterized by irregular and involuntary movements of the body. The disease causes neurodegeneration of the brain, including the caudate, putamen and cortex. This will lead to cognitive decline as the disease progresses. Additionally, weight loss is a common feature of Huntington's disease and it is very difficult for HD patients to maintain an appropriate body weight. Problems with mitochondrial dysfunction and energy metabolism are also seen, including lack of ATP production in muscle, decreased electron transport chain activity, and compromised energy metabolism in the brain and ...