Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.
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.
It takes a lot of research to decide whether a new treatment is ready to test in humans. A few years ago, we reported that a 'brain fat' called GM1 is reduced in HD, and replacement therapy showed potential in mice. Despite rumors you may have heard, it’s not ready to try in the clinic. But if preclinical research continues positively, there may be a surprising potential source of GM1: the brains of sheep.
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.
Exciting technologies such as gene silencing are being developed for the treatment of Huntington’s disease. Aside from waiting for disease progression to take place, how will we know whether they are working? This has been a major hurdle for HD researchers, but we now have a super-sensitive method to measure the build-up of harmful huntingtin protein in the nervous systems of HD patients.
Because brain cell death drives symptoms in Huntington’s disease, these cells steal the spotlight in disease-related research. But new research on the brain's blood supply has uncovered changes in HD that could be making it harder for the brain cells to cope with the disease.
In Huntington’s disease, brain cells begin dying long before disease symptoms arise. Unfortunately, good tools for monitoring early brain changes – and testing whether new therapies slow or stop them – have not previously been available. However, a newly developed tool aiming to overcome this problem may mean big changes for the way we track Huntington’s disease.
Researchers have developed a new technique that allows them to screen for genes that could contribute to the progression of Huntington’s disease and other neurodegenerative disorders. This is the first time this is possible in the mammalian central nervous system. They used the technique in an HD mouse to uncover an antioxidant gene, Gpx6, which is protective to neurons.
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.
A recent study by the Yang lab at UCLA points to a new idea for preventing damage to neurons in Huntington’s disease. The strategy is to tone down an overly helpful protein called ATM. Inside neurons, ATM provides a crucial role in repairing the cell’s infrastructure, somewhat like that of a bridge inspector, but the expanded HD protein may be causing ATM to misjudge DNA damage.
Our final report from the Annual Huntington's Disease Therapeutics Conference.