Friday, July 19, 2013

Huntington's Disease: An Introduction

By Armand Zeiders


Huntington's disease is an inherited disease, a genetic neurodegenerative disease that will cause some nerve cells in the brain to slowly dissipate away. This disease affects many people throughout the world and there are chances that more will potentially contract this disease in the future. People born with the defective gene will not see the symptoms until their late middle age. These early symptoms that people will observe in their late age are uncontrolled movements including clumsiness, and may even be unable to walk in the later stage. Non recognition of people well know to the sufferer may even be observed.

A person can have the disease when the parents have Huntington's disease (HD) and this is true even if only one of the parents has the mutated Huntingtin gene. A child will have 50 percent chance that the disease will also be acquired. While all people on Earth have the HD gene in them, it is a mutated form of the gene which causes the disease to develop. A parent might not pass the mutation to the child, and that child will be at no risk of developing the disease or passing on to their offspring. However, if the mutation is present, then the child not only will develop the disease at some point, he or she also might very well pass the gene onto their own offspring. A simple blood test is available to determine whether or not a person has the mutation.

Mood swings, irritability, and depression are some of the early symptoms seen among people with Huntington disease. Chore, which is the term for abnormal or involuntary movements, is another common initial symptoms observed in persons with this disease. Concentration and focus and also blurred speech also are observed in people as the disease progresses. The symptoms observed are only those treated since there is no cure yet for this disease.

The focus and concentration are only on the symptoms because there is no known cure yet or not yet discovered or even on how to reverse the disease and even the current treatments are not particularly successful at dealing with symptoms. Early symptoms can occur during childhood, but this is rare and it is far more typical to not have symptoms until after the age of 30 or perhaps older. After the first symptoms begin to appear, life expectancy is generally around 20 years and the rate of progression varies from person to person.

The Huntington disease gene was first discovered in 1993 and while much research has been done and continues to occur, scientists still have not been able to identify a way to either cure or stop the disease or even develop treatments that can effectively manage many of the symptoms of this disease. However, researchers are still actively looking for ways to stop Huntington's disease or at least provide treatment options that limit the effects of this debilitating disorder.

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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