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Genetics: Huntington's Disease - Research Paper Example

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Huntington’s disease is a hereditary disorder affecting the central nervous system. It usually presents with abnormal movements, psychiatric symptoms, and cognitive dysfunction. It is a rare disease that manifests only in 5-10 individuals in every 100,000 Caucasians, with much lower prevalence among Asian and other populations…
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Genetics: Huntingtons Disease
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Download file to see previous pages Patients with Huntington’s disease also develop dementia, manifesting as the inability to plan or organize. Patients develop poor judgment and impaired memory, with drastic effects on other psychomotor processes. In animal studies, mice with mutated Huntington’s disease gene are found to have excitatory synapses that cannot sustain transmission during repeated stimulation. This causes defects in synaptic plasticity, which is theorized to play a role in memory. The diagnosis of Huntington disease is usually straightforward in a patient presenting with the motor, behavioral and psychiatric signs, with a family history of a parent with the disease. A thorough family medical history must be done if the history of the disease is not elicited immediately. For testing, the current gold standard is DNA determination, which would show a CAG-repeat of 36 or more on the huntingtin gene on the chromosome. Before doing a DNA test, the patient must be counseled.
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This causes defects in synaptic plasticity, which is theorized to play a role in memory (Usdin et al. 839). The diagnosis of Huntington disease is usually straightforward in a patient presenting with the motor, behavioral and psychiatric signs, with a family history of a parent with the disease. A thorough family medical history must be done if history of the disease is not elicited immediately. For testing, the current gold standard is DNA determination, which would show a CAG-repeat of 36 or more on the huntingtin gene on chromosome 4. Before doing a DNA test, patient must be counseled (Roos 5). Prenatal diagnosis may also be done for parents aware of whether or not they have Huntington’s disease. Chorionic villus is sampled between 10th and 12th weeks of pregnancy, and amniocentesis done between 15th and 17th weeks for DNA testing. The pregnancy may be terminated if the embryo is found to have the gene for Huntington disease, although the mother could decide otherwise (Roos 6). The symptoms of Huntington’s disease are brought about by the progressive neurodegeneration of the basal ganglia, which may also involve the cerebral cortex. It is an autosomal dominant inherited disease, which is characterized by an elongated CAG repeat on the short arm of chromosome 4p16.3 in the huntingtin gene. This gene codes for the huntingtin protein wherein the normal or wild-type variant has a series of CAG repeats which code for glutamine residues. Normally, there are 10-29 repeats of the CAG, which is expanded up to 121 in patients with Huntington disease (Kumar, Kalonia, and Kumar 2). The huntingtin protein is widely expressed in the central nervous system. Because of the mutation, it accumulates and triggers a ...Download file to see next pagesRead More
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