Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.
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.
Everyone with Huntington's disease has inherited the same type of mutation from their mother or father, an extra-long repetitive stretch of the sequence C-A-G in their HD gene. But the length of the mutation varies between individuals, and longer repeats are associated with earlier onset of symptoms. A huge new international study reveals that slightly longer-than-normal CAG stretches are much more common than we thought. Surprisingly, this turns out to be good news.
It’s a great mystery why different people with the same HD mutation sometimes develop symptoms at vastly different ages. Last year a huge genetic analysis gave us some interesting clues, and now, researchers are focusing in on the most promising results. A recent study shows that tiny changes within genes that repair damaged DNA can have a big effect on age of onset in HD and related diseases.
If it's February, that means the the world's leading scientists are converging on Palm Springs for the annual HD therapeutics conference!
Even though every patient with Huntington's Disease has a mutation in the same gene, the age at which HD patients develop symptoms varies widely. A global consortium of HD researchers has just published a landmark study of genetic differences between people that might explain some of that variability, producing some tantalizing new targets for drug discovery efforts.
Just like it is difficult to predict exactly when a storm will hit, predicting when Huntington’s disease symptoms will arise for any particular person is hard to do. However, new research suggests that tiny changes in the on switch of the Huntington’s gene affect symptom onset – and may provide important information in the search for Huntington’s therapies.
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.
In Huntington’s Disease, one of the many problems arising from the disease mutation is that DNA gets folded incorrectly. A new study in mice reveals that a drug changing the way DNA folds may have beneficial effects in Huntington’s – even for the untreated offspring of treated individuals. This discovery could affect how we think about drug therapies for Huntington’s Disease.
Our third daily report from the World Congress on Huntington's Disease in Rio de Janeiro, Brazil.