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Huntington's disease: Irish team identify enzyme behind condition [Print to PDF] [Print to RTF]

Irish researchers have made new strides in the treatment of Huntington's disease by identifying an enzyme linked with genetic mutations associated with the condition.

Presenting their findings in the journal PLoS Biology, the team, from the National University of Ireland Galw...
Huntington's disease: Irish team identify enzyme behind condition
Irish researchers have made new strides in the treatment of Huntington's disease by identifying an enzyme linked with genetic mutations associated with the condition.

Presenting their findings in the journal PLoS Biology, the team, from the National University of Ireland Galway, describe how the experiments they carried out helped them reduce the harmful effects of the enzyme by altering its activity. Although their finding cannot cure the disease, the scientists believe it will go some way to controlling its progression.

At the moment there exists no means of slowing down the onset of the condition; available treatments are only capable of managing the symptoms.

An inherited, degenerative brain disorder that causes uncontrolled movements and emotional disturbances as well as severe mental deterioration, Huntington's disease remains incurable.
People who suffer from the condition may also become depressed, and lose their short-term memory capacity. Normally, the disease begins between ages of 30-45, and every individual who has the gene for the disease will eventually develop the disease. Huntington's is an autosomal dominant genetic disorder, meaning that if one parent carries the defective Huntington's gene any of their offspring have a 50/50 chance of inheriting the disease too.

The World Health Organization (WHO) estimates that about 5-7 people per 100,000 are affected by the condition.

The enzymes identified by the scientists in this new study are called histone deacetylase complexes (HDACs). When HDACs are active, they exacerbate the disease-causing mutation in cells, which the researchers believe contributes to the severity of the disorder. When the team inhibited the HDACs with experimental drugs the risk of further mutation was significantly lower.

'Ongoing mutations in the brain of Huntington's patients are thought to drive progression of the disease,' comments lead author of the study Professor Robert Lahue. 'Our discovery suggests that inhibiting HDAC function slows down the mutation process, and thereby could slow disease progression. A key finding of the research was to pinpoint specific HDACs for selective inhibition. Huntington's is a particularly cruel disease, as it is passed from parent to child, often with increased severity or earlier onset.'

Professor Lahue continues: 'With modern genetic testing, people can now establish whether they received the mutant gene from their parent, but then they live a waiting game for the onset of symptoms, which usually appear around the age of 40.'

Although these newly developed HDAC inhibitors are still at the experimental stage, positive results in the preliminary stages bode well for future treatment developments. The results may also have implications for research into certain other related neurological disorders, such as myotonic dystrophy type I, a type of muscular dystrophy caused by the same sort of mutation as seen in Huntington's.
Source: National University of Ireland Galway

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  • Ireland
Record Number: 34331 / Last updated on: 2012-02-23
Category: Miscellaneous
Provider: EC