Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.
Exciting new studies provide evidence that a particular kind of cellular trafficking goes awry in Huntington's Disease. Specifically, researchers have learned that traffic in and out of the cells control center - the nucleus - breaks down in HD. These findings open up new avenues for HD research.
DNA damage is a hot topic in HD – and new research offers an intriguing explanation. Canadian researchers have uncovered a potential role for huntingtin in the repair of DNA. They speculate that the normal protein is recruited to the nucleus to provide a supporting scaffold for a construction crew of DNA repair proteins. Mutant huntingtin can commute to the job, but can’t perform.
A relatively new technology called exome sequencing has identified a few families with novel mutations in their HD genes. These are different than the mutation that causes HD, but allow researchers to better understand the normal role of the HD gene.
Most research on Huntington’s disease is done using animal models that mimic the human disease. However, these models typically recreate only a few of the disease’s symptoms, and there are some important symptoms that don’t show up in any model at all. Now, exciting new research is making great strides against these problems – and teaching us about the disease at the same time.