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New Targets for Huntington’s Disease Treatment Identified

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Huntington's disease is a hereditary brain disorder whose exact causes have not been identified. There are also no known treatments for this medical condition. However, new research has currently identified certain mechanisms of the disease which may later on serve as a potential target for treatment.

What Is Huntington's Disease?

Huntington's disease is a hereditary brain disorder which often causes damage to brain cells and leads to neurological deterioration. This disease affects movement, cognition and behaviour of individuals affected, and may also affect the way they think, talk, reason and move. These people soon develop deterioration little by little and may rely on caregiver care and treatment. Huntington’s disease can affect quality of life of those affected, as well as their emotional, physical, mental, social and economic aspects.

Huntington's disease was previously known as Huntington's chorea because of the involuntary movements such as jerks affecting the sufferer. This medical condition can affect both men and women equally and often starts during middle age. It has a predisposition according to races; Asians and Africans have a 1 in 1,000,000 risk of acquiring it while Caucasians have a risk which is about 70 to 100 times higher.

Huntington's disease can give rise to various signs and symptoms which may start at age 35 to 55 years old. These signs and symptoms may worsen for the next ten to twenty years until the patient dies. Signs of this disease often include slight uncontrollable movements, clumsiness, stumbling, some slight signs of lack of emotion, lack of focus, slight concentration problems, lapses in short-term memory, depression and mood behaviours which may include antisocial behavior and aggression.

As Huntington's disease progresses, signs and symptoms may become more severe. These signs and symptoms may include physical changes not including uncontrollable movements, difficulty in speech through expression or slurring, weight loss due to problems in swallowing and chewing food leading to choking, problems in balance and coordination, uncontrollable movements, jerking of parts of the face or of the head, flicking or fidgety movements of the limbs and trunk, stumbling and lurching and slower movements. Also, there may be emotional changes such as aggression, anger, apathy, antisocial behaviour, depression, lack of emotion, moodiness, stubbornness, cognitive changes, loss of organizational skills, loss of initiative, disorientation, and problems focusing. Now you can see that this disease can have physical, psychological and emotional changes. People can also die from complications of this disease such as pneumonia, aspiration, choking and other infections. Huntington's disease can weaken the immune system in the long run. This makes the sufferer prone to infections and other complications. Thus the diet of the patient should be adjusted to ensure adequate food intake.

Huntington's disease is a genetic condition. Genetic testing should be done on children of patients who have the disease, as these children have a 50% chance of inheriting the defective gene. Genes are made up of DNA which are packaged in strands called chromosomes. The faulty gene in Huntington’s disease is found on chromosome number 4. The faulty gene is larger than it should be and produces a larger form of Huntington, a protein. Some brain cells react to Huntington so that they get destroyed. The cells that especially get damaged the most are those found in the part of the brain that controls movement.

Targets for Huntington's disease

A UCLA study published March 30 in the online edition of Nature Neuroscience has found out that tweaking a cell's ability to absorb potassium in the brain was able to improve walking and prolonged survival in a mouse model of Huntington’s disease. This could lead to new drug targets for treatment of this disease. The researchers were able to unravel the role played in Huntington’s by astrocytes–large, star-shaped cells found in the brain and spinal cord. Two mouse models have been used to explore whether astrocytes behave differently during Huntington’s disease: the first mimicked aggressive, early onset of the disorder, while the second imitated a slow-developing version. In these two models, astrocytes with the mutant gene showed a measurable drop in Kir4.1, a protein that allows the astrocyte to take in potassium through the cell membrane.

If you want to know more about Huntington's disease, feel free to read other articles on this site.