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== Huntington's Disease == | == Huntington's Disease == | ||
One unique feature of the Huntington's Disease protein, Htt, is that it features a HEAT repeat like that of PP2A. Continued understanding of how PP2A heat repeat operates could provide valuable insight in understanding the mechanisms of Huntington's Disease function. Huntington's disease is caused by the huntingin protein, Htt, which is found in all mammalian cells. The protein is known to be involved with numerous functions in the body such as signal transduction, transcription and intercellular transporting. <ref>Harjes P, Wanker EE (2003). "The hunt for huntingtin function: interaction partners tell many different stories". Trends Biochem. Sci. 28 (8): 425–33. doi:10.1016/S0968-0004(03)00168-3</ref> Huntington's Disease is thought to be a result of toxic function of the Htt protein, mHtt, instead of a lack or excess of the protein. <ref>Walker FO (2007). "Huntington's disease". Lancet 369 (9557): 218–28 [221]. doi:10.1016/S0140-6736(07)60111-1</ref> Modifications of the Htt protein result in either mHtt proteins high in glutamine or fragments from cleavage that are high in glutamine. The polar nature of glutamine causes the protein to form clumps which center around the axons and dendrites of neurons. These clumps result in lack of normal nerve function leading to the visible symptoms of Huntington's Disease. <ref>"Huntingtin Protein and Protein Aggregation | HOPES – A guide to the science of Huntington's disease"</ref> | One unique feature of the Huntington's Disease protein, Htt, is that it features a HEAT repeat like that of PP2A. Continued understanding of how PP2A heat repeat operates could provide valuable insight in understanding the mechanisms of Huntington's Disease function. Huntington's disease is caused by the huntingin protein, Htt, which is found in all mammalian cells. The protein is known to be involved with numerous functions in the body such as signal transduction, transcription and intercellular transporting. <ref>Harjes P, Wanker EE (2003). "The hunt for huntingtin function: interaction partners tell many different stories". Trends Biochem. Sci. 28 (8): 425–33. doi:10.1016/S0968-0004(03)00168-3</ref> Huntington's Disease is thought to be a result of toxic function of the Htt protein, mHtt, instead of a lack or excess of the protein. <ref>Walker FO (2007). "Huntington's disease". Lancet 369 (9557): 218–28 [221]. doi:10.1016/S0140-6736(07)60111-1</ref> Modifications of the Htt protein result in either mHtt proteins high in glutamine or fragments from cleavage that are high in glutamine. The polar nature of glutamine causes the protein to form clumps which center around the axons and dendrites of neurons. These clumps result in lack of normal nerve function leading to the visible symptoms of Huntington's Disease. <ref>"Huntingtin Protein and Protein Aggregation | HOPES – A guide to the science of Huntington's disease"</ref> | ||
Huntington's Disease is a genetically inherited disease that is dominant in nature. This means an infected parent will have a 50% chance of transmission to their child. It is classified as a neurodegenerative disorder that will result in death. The disease can strike as early as childhood but usually starts to affect the individual from the 35 to 45 years of age. Initial signs consists of mood changes for the first few years followed by disruption of motor skills called chorea. Chorea is a term to describe jerky uncontrolled movements of the extremities followed by the entire body as the disease progresses. Chorea like conditions are also present in individuals with Parkinson's Disease. Huntington's Disease continues to affect the mind as well as the body. The later stages of the disease will result in a individual that could be described as being schizophrenic with dementia and Alzheimer's disease that also has Parkinson's Disease. The individual will fade both mentally and physically until death comes in the common form of heart failure or pneumonia from the weakened condition. This disease creates a lot of controversy in the genetic counseling community due to the fact that it can now be detected as early as in-vitro fertilization. The ramifications from a positive diagnosis would be considered by most as a life shattering event. There is a quote from a Campbell biology textbook that poses the question of 'At what point would it be beneficial to know that the individual has a incurable fatal disease that will generally result in death in the early fifties'? | Huntington's Disease is a genetically inherited disease that is dominant in nature. This means an infected parent will have a 50% chance of transmission to their child. It is classified as a neurodegenerative disorder that will result in death. The disease can strike as early as childhood but usually starts to affect the individual from the 35 to 45 years of age. Initial signs consists of mood changes for the first few years followed by disruption of motor skills called chorea. Chorea is a term to describe jerky uncontrolled movements of the extremities followed by the entire body as the disease progresses. Chorea like conditions are also present in individuals with Parkinson's Disease. Huntington's Disease continues to affect the mind as well as the body. The later stages of the disease will result in a individual that could be described as being schizophrenic with dementia and Alzheimer's disease that also has Parkinson's Disease. The individual will fade both mentally and physically until death comes in the common form of heart failure or pneumonia from the weakened condition. This disease creates a lot of controversy in the genetic counseling community due to the fact that it can now be detected as early as in-vitro fertilization. The ramifications from a positive diagnosis would be considered by most as a life shattering event. There is a quote from a Campbell biology textbook that poses the question of 'At what point would it be beneficial to know that the individual has a incurable fatal disease that will generally result in death in the early fifties'? | ||
