A gene variant could help doctors establish whether a victim of Huntington’s disease is at risk of developing the disease while young, researchers have reported.
The disease is known to be linked to the huntingtin gene, making it possible to identify those at risk of developing it.
The Swedish and Canadian researchers say they have found a small genetic change outside this gene and that this seems to determine when the disease occurs.
The new genetic change can delay the disease or accelerate it depending whether it sits on the normal copy of the huntingtin gene – or the mutated gene which causes the disease.
Researcher Dr Ola Hermanson said the discovery offered a “smorgasbord” of ideas for new therapies.
Reported in Nature Neuroscience, the research involved the Karolinska Institutet, Sweden, and the University of British Columbia, Canada, together with University College, London, and Copenhagen University, Denmark.
Researcher Dr Kristina Bečanović, from the Karolinska Institutet, said: “Our findings are extremely important to the development of disease-modifying treatments, which not only reduce the symptoms but also protect the brain.
“For example, much research has gone into silencing the expression of the huntingtin protein, something that will be tested in patients within the near future. Our work is the first to support the claim that this type of therapy could help people with Huntington’s disease by slowing the progress of the disease.”
A SNP in the HTT promoter alters NF-kB binding and is a bidirectional genetic modifier of Huntington disease. Nature Neuroscience 4 May 2015; doi: 10.1038/nn.4014
Leave a Reply