Study Uncovers Target for Preventing Huntington’s Disease
News Jul 31, 2015
There is currently no cure for Huntington’s disease – a condition which affects an estimated 8000 people in the UK.
But new findings suggest that it could be possible to delay its effects or even prevent it altogether, allowing people with the Huntington’s gene to live healthy lives for longer.
Huntington’s disease is a degenerative brain disorder that usually affects people in middle age. 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 the UK arm of 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 team compared the age of onset and the DNA of over 6000 people with Huntington’s disease. They found 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.
This discovery could be the key to developing new treatments, explains Professor Jones:
“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.”
Professor Jones stresses that a treatment could still be a decade or more away, but that these new findings open up exciting new avenues for research.
“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.”
Molecular biologists long thought that domains in the genome’s 3D organization control how genes are expressed. After studying highly rearranged chromosomes in fruit flies, researchers now reveal that while this is the case for some genes, their results challenge the generality of this for many others.READ MORE