Genetics and Huntington's chorea

Abstract

This paper discusses the biological aspects of Huntington's disease (Huntington's chorea). It is an inherited genetic disorder and its clinical considerations and can be summarized as a neuropsychiatric disorder. It is a rare hereditary disease described by rapid spontaneous movements, speech instability, and mental weakening due to chronic variation in the cerebral cortex and basal ganglia. It emerges in the middle age, and the patient's condition gets worse over a period of about 15 years to total incapacitation and death.

Genetics and Huntington's chorea

Introduction

Huntington's disease is an inherited genetic disorder and its clinical considerations can be summarized in a neuropsychiatric disorder. Its symptoms usually appear in the middle of the life of the person who has it (about 30 or 50 years on average) but may occur earlier, and neuronal degeneration patients show steady, progressive and uninterrupted until the end of the disease which usually coincides with the end of his life for dementia and death or suicide. This genetic disease has an autosomal dominant, which means that any child in a family in which one parent is affected, has a 50% chance of inheriting the mutation that causes the disease. The condition of the disease may follow very different paths, even siblings and close relatives. This is because, by the specific mutation of the gene for huntingtin, also involved other hereditary factors. The disease causes cognitive impairment, very slow progression over a period of 15-20 years. The more external feature associated with the disease is the exaggerated movement of limbs (choreic movements) and the sudden appearance of faces. (News-Medical.Net. ,2009)

Moreover, it becomes increasingly difficult to speak and swallow. In the final stages of the disease, the duration of the movement is lengthened, keeping members complicated and painful positions during a time that can extend to hours.However, serious psychic disorder usually precede the muscle is the characteristic features of the disease. This can trigger depressive episodes repeated with negative impact on the environment relatives. The cognitive decline and memory, and attention span worse. The disease ends up being the cause of dementia in patients. Also, note that the suffering wrought by the disease itself and its aftermath may involve suicidal wishes. (University of California, San Francisco, 2009)

History

In 1872, the physician George Huntington, first observed the disease in an American family of English descent and gave it the name “Huntington's disease.” The alternative name of “Korea” comes because visible symptoms found among choreic movements, i.e.| involuntary, jerky movements of the limbs. It is believed that the origins should be in northwest Europe and from there spread to the rest of the world, especially in America where we find high rates of this condition. In 1933, it was discovered that the trigger for the disease was subsequently located a genetic mutation in chromosome 4, which was published in the journal Nature in 1982 by the genetics team at the Faculty of Medicine at Harvard University, Boston. (National Human Genome Research Project ,2009)

The largest known population with Huntington's Disease is in ...