Scientists are closer to developing a treatment to prevent or delay the symptoms of Huntington’s disease, following a major breakthrough.
The Cardiff University study, published in the Journal Cell, has found that it could be possible to delay the disease’s effects or even prevent it altogether, allowing people with the Huntington’s gene to live healthy lives for longer.
The study’s author and professor of neurogenetics, Lesley Jones, has stressed that a treatment could still be a decade away, yet the findings could open up new avenues for research. She commented: “Our findings may not be able to help those already affected by Huntington’s disease, but this could prove to be a turning point in how we treat the disease in future generations.”
At present there is not a cure for Huntington’s disease – a condition which affects an estimated 8,000 people in the UK.
Huntington’s disease is a degenerative brain disorder that usually affects individuals in middle age. Those individuals who have inherited the single defective gene are expected to live for 15–20 years following the first onset of symptoms.
The symptoms of this rare genetic condition can be extremely distressing both for patients and their families. They include uncontrollable movements, loss of cognitive abilities and even changes in behaviour and personality.
Leading a major international collaboration, Professor Lesley Jones and her team at Cardiff University’s MRC Centre for Neuropsychiatric Genetics and Genomics (MRC CNGG) examined the biological mechanisms that underlie the illness.
The DNA of over 6,000 people with Huntington’s disease and the age of onset were compared. Findings have revealed that biological processes in the body that control the manufacture and repair of DNA can influence the age at which a person will develop the condition.
With this discovery in mind, Professor Jones has suggested that this could be the key to developing new treatments. She added: “We have known for over 20 years that the number of times a certain sequence of DNA repeats itself plays a part in the age at which the symptoms of Huntington’s disease develop. This research goes a step further, and tells us that the way that repeated sequences of DNA are handled by brain cells is likely to be critical in Huntington’s disease.
“In understanding the mechanisms by which nature influences the age of onset of this devastating condition, we have identified a target for potential treatments. If we can develop a way to interfere with these processes, then we could possibly delay or even prevent the onset of the disease.”