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Wysłany: Pią 2:22, 27 Maj 2011 Temat postu: What namely Huntington's Disease A Short Summary o |
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Psychiatric symptoms are harder to diagnose, with the most general symptom creature depression. This can contain hostility and a loss of motivation. Many patients also become manic-depressive and experience lusty mood swings. Delusions and hallucinations also occasionally result from the disease and can frequently cause the subject to suffer from feelings of paranoia.
class="dynamic">The Cause
Huntington's Disease (HD) results from a mutation in the protein Huntingtin. This protein contains a section where the amino acid glutamine is continual several times. This is called the polyglutamine region. In most individuals,Age-Related Macular Degeneration, the polyglutamine region contains elsewhere between ten and thirty-four repeats. However, in folk anguish from Huntington's the protein will contain thirty-five repeats or more.
2. Nguyen, T., Hamby, A., and Massa, S. M. (2005) Proc. Natl. Acad. Sci. U. S. A. 102,[link widoczny dla zalogowanych], 11840–11845
References:
Symptoms
Read on
Huntington Disease ― Basic Genetics
Huntington's and a New Protein Found in the Brain
Nucleotide Repeat Disorders
1. Young, A. B. (2003) J. Clin. Invest. 111,[link widoczny dla zalogowanych], 299-302.
Reasons for Hope
Animal models of HD have been studied for annuals and have invested many targets because manipulation. Ceasing the making of mutant Huntingtin and disallowing the operation of protein cleaving enzymes appointed caspases either seem to have the latent to cease or reverse the action of disease.
The pathology of Huntington's Disease is by far fully understood, yet what namely known is namely while Huntingtin proteins involve also many repeats, they bind extra readily apt every additional and apt additional major proteins namely include polyglutamine districts. The accessory repeats likewise harm the natural feature of Huntingtin. Brains of HD patients exhibit clumps of Huntingtin protein cried aggresomes,[link widoczny dla zalogowanych], but they seem to be one artifact of neuronal cell death and not the occasion. It appears more possible that free floating mutant Huntingtin binds to other polyglutamine containing ingredients in the cell's kernel meant to interact with DNA and straight the compartment ashore how to function,[link widoczny dla zalogowanych], grow, and separate. Mutant Huntingtin tin too cause mistakes in the cells' ability to create vigor through their mitochondria. As a outcome, the mutant Huntingtin interferes with neuronal function over time and leads to the necrosis and dysfunction of cells in the head.
Cognitive impairment can be widespread, particularly reaching the end stages of the disease. Simple tasks such as numbers and customary chores can convert a dare as memory and decision-making become impaired. Often, the loss creates difficultly distinguishing these symptoms from those of a psychiatric ecology.
The number of times the amino sour is repeated links to the severity of this disease. People with thirty-five to thirty-nine repeats may experience few or no symptoms over the course of their lifetime. Almost everybody whose polyglutamine region contains forty or more repeats will suffer from the disease if they reach a late enough age, with attack occurring approximately an average of forty-years-old. Individuals with fifty-five or more repeats may begin showing symptoms as a young. The disease is usually malignant between ten and twenty years behind symptoms premier appear.
Huntington's Disease is represented by three types of symptoms: motor, psychiatric, and cognitive.
Motor dysfunction involves involuntary, uncontrolled activities. These can begin as inferior twitches and tics, but eventually guide to a common loss of coordination and poise that make wading, speaking, and eating increasingly laborious.
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