Huntington’s Disease

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21 Oct 2013

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  • Brain Disease, Huntington's Disease

Prevalence:

Huntington’s disease (HD) is a devastating brain disorder which affects ~ 1 in 10,000 individuals of European ancestry.

Symptoms:

Patients with HD show motor deficit, cognitive and mental disturbances resulting from loss of brain cells. These symptoms eventually lead to death 15 to 20 years after.

The Cause for Disease:

is a change in the sequence of DNA in a gene called huntingtin which leads to production of the abnormal version of the huntingtin protein in every cell of the patients body. This ‘mutation’ was discovered in 1993 by the HD Collaborative Research Group.

Hereditary Nature of HD:

HD is a genetic disease with no obvious involvement of environment. If a person’s parent has HD, there is a 50% chance that the person will develop it too.

Effects on the brain:

In the brain of the HD patients, a region called caudate and putamen (also known as the striatum) is severely affected and neurons (the other name for brain cells) in this region become “selectively” degenerated.Slide1

Mystery! :

The ‘mutation’ in the huntingtin gene exists in every single cell in the body but how is it that only brain cells, particularly the striatum cells, are vulnerable?? The selective neurodegeneration in the striatum makes this region of the brain a curious candidate for further analysis.

Strategies for treatment or cure:

Unfortunately, there is no effective treatment or cure for HD to this date. However, many different laboratories around the world are working hard to tackle the disease from different angles and share their knowledge with the scientific community.

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