The February 21 issue of the open access journal PLoS Biology reveals that researchers from the National University of Ireland Galway have made an important scientific discovery in the battle against Huntington's disease.
Worldwide, more than 100,000 people are affected by Huntington's disease, an incurable, inherited, neurodegenerative disorder which causes uncontrolled movements, emotional disturbances, and severe mental deterioration. Estimates show that another 300,000 are likely to develop symptoms in their lifetime. At present, the only treatments available are designed to manage the symptoms. There is no medication available that can halt the progression of the disease.
The new research has discovered specific enzymes, HDACs or histone deacetylase complexes, as positive agents for the mutation that cause Huntington's disease. The researchers observed that when active, HDACs exacerbate the disease-causing mutation in cells, which possibly contributes to the severity of the disorder and that the risk of further mutation can be greatly reduced by blocking these HDACs with experimental drugs.
Leading author Professor Robert Lahue of the National University of Ireland Galway's Centre for Chromosome Biology explains:
"Ongoing mutations in the brain of Huntington's patients are thought to drive progression of the disease. 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."
At present, there are several U.S. laboratories that are testing the efficacy and safety of the new HDAC inhibitors in laboratory models of Huntington's and other diseases. Professor Lahue and his team anticipate working with these laboratories to assess the effect of HDAC inhibitors on the mutational process.
Professor Lahue states:
"Huntington's is a particularly cruel disease, as it is passed from parent to child, often with increased severity or earlier onset. 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."
He pointed out that the HDAC inhibitors are still in an experimental stage and that there is still some time to pass before developing future potential drugs, however, he continues saying:
"It is very exciting that basic research at National University of Ireland Galway, funded by Science Foundation Ireland, has created a new possibility for helping Huntington's patients and their families."
The findings may also affect research of certain other neurological disorders, for instance, myotonic dystrophy type I, which is a form of muscular dystrophy that is caused by the same kind of mutation as seen in Huntington's.
Written by Petra Rattue