Researchers in NUI Galway have this week announced a breakthrough in the fight against the degenerative neurological disorder Huntington’s disease. A team at the university’s Centre for Chromosome Biology has discovered experimental drugs which could be developed as a way to slow the progress of the condition.
Huntington’s disease is a neurodegenerative disorder that causes uncontrolled movements, emotional disturbances, and severe mental deterioration. The illness is hereditary and there is no cure. It affects more than 100,000 people worldwide, with another 300,000 likely to develop symptoms in their lifetime. There is currently no way to halt progression of the disease, and available treatments are designed only to manage the symptoms.
The research team at NUI Galway have identified specific enzymes called HDACs, or histone deacetylase complexes, as causative agents for the genetic mutation that underlies Huntington’s disease. When HDACs are active, they exacerbate the disease-causing mutation in cells, possibly contributing to the severity of the disorder. The new research found that blocking these enzymes with experimental drugs greatly reduced the risk of further mutation, thereby slowing the progress of the disease.
Their findings were published this week in the online open access journal PLoS Biology.
“Ongoing mutations in the brain of Huntington’s patients are thought to drive progression of the disease,” said Professor Robert Lahue of National University of Ireland Galway’s Centre for Chromosome Biology, and lead author on the new research paper. “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.”
Several laboratories in the US are currently testing new HDAC inhibitors in the laboratory for efficacy and safety. Professor Lahue and his research group hope to work with these labs to evaluate the effect of HDAC inhibitors on the mutation process.
“Huntington’s is a particularly cruel disease, as it is passed from parent to child, often with increased severity or earlier onset,” Professor Lahue added. “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.”
Professor Lahue emphasised that the HDAC inhibitors are still experimental, and that their development to potential drugs is still some way off. “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,” he said.
The findings may also have implications for research into other neurological disorders, such as myotonic dystrophy type I, a type of muscular dystrophy caused by the same sort of mutation seen in Huntington’s.
Probably the best known Huntington’s sufferer is the US folk singer Woodie Guthrie, who found fame in the 1940s for songs such as ‘This Land Is Your Land’ and developed symptoms later in the same decade. He died at the age of 55 in 1967 due to complications of the disease.