Huntingtin

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    Understanding Huntington's Disease Huntington's disease is an inherited neurodegenerative disorder. It is passed on to children from one or both parents (though two parents with Huntington's is extraordinarily rare) in an autosomal dominant manner. This is different from autosomal recessive disorder, which requires two altered genes (one from each parent) to inherit the disorder. So if one parent has it, and passes the gene on to a child, that child will develop Huntington's disease if they live

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    Essay on Huntington’s Disease

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    Near the end of the short arm of chromosome four, there exists a gene which can cause an individual to experience three completely different lives. If the gene is expressed normally, one will never know, as it will not cause the person any harm. However, if the gene simply does not exist, the individual will be born with Wolf-Hirschorn Syndrome, a devastating illness which causes disfigured facial features and mental retardation. (Ridley, 55) Victims of this syndrome rarely live past the age of

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    Scientists currently do not know for certain why the cells within the basal ganglia specifically die in Huntington’s patients because the huntingtin protein is present is all cells not just exclusively nerve cells. The normal function of the huntingtin protein is relatively unknown but it is necessary for growth and development and is active throughout the body. “The huntingtin protein undergoes a posttranslational modification, and some events like phosphorylation play a large role in helping

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    Introduction Huntington’s disease is a neurodegenerative disorder that is inherited in an autosomal dominant fashion. The cytoplasmic protein affected in Huntington’s disease is Huntingtin, coded for by the Huntingtin gene. The mutated version of the Huntingtin protein has several degenerative consequences on the molecular level. These are mainly caused by the elongated chain of glutamines that abberantly interacts with proteins and diminishes their biological functions. The mutated protein also

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    Abstract Huntington’s disease is an autosomal, dominant inherited disorder caused by a polyglutamine expansion at the amino-terminal on the huntingtin protein. It causes a progressive degeneration of spiny nerve cells in the striatum and cortex of the brain, impairing a person’s functional and cognitive abilities. Polyglutamine repeats of 36 are found to be non-threating but sequences containing an additional two or three repeats are associated with Huntington’s disease. According to aggregation

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    Huntington's Disease

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    The huntingtins gene allele expands greater than 36 CAG units. But the normal individuals have less than 36 CAG units. Huntingtin is the names for the defective protein that the mutation generates. The protein has uncertain molecular function that makes it found throughout the body (Barboza and Ghisi 2018). This explains

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    Rooting back to the middle ages the now commonly known Huntington’s disease is the cause of death in one out of 15000 people around the globe. The disease’s existence is documented through history under many different names depending on the amount of information that was gathered through the unusual progression of the disease. The disease was referred to as Chorea initially due to the jerky movements of the patients affected by it. The first thorough description of the disease surfaced in 1872 as

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    at the University College London developed a drug that lowers the deadly protein in Huntington’s disease. Their new drug has successfully lowered the harmful effects of the huntingtin protein, a protein in the brain that can mutate. The drug was also found safe and well-tolerated in its first human clinical trial. Huntingtin protein is found in every human gene. A gene is a section of DNA made of four different nucleotide bases called adenine, cytosine, guanine, and thymine. At the beginning of this

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    of European decent (Driver-Dunckly et. Al 2007). This means there is a problem with the trinucleotide that codes for glutamine, cytosine-adenine-guanine (CAG). In the case of HD there is an extreme overproduction of the CAG repeats in the protein huntingtin. Accumulation of this mutated form of the protein in neurons causes cell atrophy which in turn causes the brain to malfunction. The disease was first described by Dr. George Huntington in 1872, however it wasn’t until 1993 that the cause of the

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    dominant manner, means that the inheritance of a single copy of the mutant huntingtin allele containing an expanded CAG repeat region in exon 1 (>36 CAG repeat) causes the disease. Translation of the mutant allele mRNA yields the mutant huntingtin protein (mHtt) containing an expanded polyglutamine region near the amino terminus, which favor protein cleavage and accumulation of the N-terminus in the nucleus. N-terminal huntingtin affects transcription of subsets of genes. Early in HD progression, levels

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