Thursday, July 18, 2013

Huntington's Disease: An Introduction

Huntington's Disease: An Introduction

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.

Because there is no cure discovered yet to treat the disease or to reverse it, the focus is only on the treatment of the symptoms observed. First symptoms of a person having the disease may be observed when the person is 35 but this can also be observed during the early childhood. However, most of the symptoms only occur when the person reaches the late middle age. Life expectancy after diagnosis is typically around 20 years after symptoms begin to occur.

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.

Huntingtin protein is the specific protein in the Huntington gene of the person having this disease. This is the protein that will become abnormally long when the gene mutation occurs. There are biotechnology firms that provide services that help in the research studies of this specific protein type. These studies consist of protein analysis, protein sequencing services and also N-terminal sequencing services.




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