Sunday, July 21, 2013

Understanding Huntington's Disease

By Armand Zeiders


Huntington disease in a person is an inherited genetic disease, a neurodegenerative disease that causes brain nerve cells to waste slowly. The disease affects many people worldwide, including tens of thousands of Americans. The disease is passed along from a parent to a child, but because a person usually does not show symptoms of the disease until later in adulthood, those with Huntington's often unknowingly pass the disease onto their children. Uncontrollable movements and dementia-related symptoms are common among sufferers.

Because this disease is almost always inherited, children of those with Huntington's disease have a high risk of contracting the disorder as well. The disease is caused by a mutation in the Huntington's gene that all people possess. Most of us do not have the mutation, but anyone who has the mutation will develop the disorder. Rarely does the disease occur in a person who did not have a parent with the disease. While a child may inherit the mutation, this is not always the case. The good news is that if a child does not inherit the mutation, they not only will not acquire the disease, they also will not pass a mutation on to their own offspring.

Early symptoms observed from people with this disease are mood swings, irritability, and also depression. First symptoms can also be involuntary movements or abnormal movements (known as chorea). When the disease progresses, concentration can be impaired and slurred speech can occur. There is no cure yet of the disease and medications are used only to help treat the symptoms observed.

Since there is no cure yet to stop the disease or reverse it, concentration is focused on the symptoms and how to treat these. The first symptoms that the person has this disease can occur at the early age of 35 but can also occur during childhood. These symptoms though may only appear at late middle age. The life expectancy of a person having this disease is usually 20 years after the diagnosis is made. There are few treatment options available, and many treatments are still in clinical trial stages.

Numerous clinical trials and an abundance of medical research is ongoing to find a cure for Huntington's disease. The actual gene where the mutation occurs, known as the Huntingtin's gene, was not discovered until 1993. From that point on, research has focused on understanding how the mutation occurs, as well as finding a way to stop the mutation and also there has been plenty of research into finding suitable and effective treatments for those with this disease.

The specific protein found in the HD gene of the person with this disease is known as the Huntingtin protein. This specific protein will grow abnormally long when gene mutation occurs, so medical researchers are studying this protein and the mutation of the protein. Biotechnology firms are around to provide services to help in the clinical research conducted for this specific protein, the HD protein. Studies These biotech companies provide helpful services such as N-terminal sequencing and protein sequencing and protein analysis, all of which further scientific research.




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