Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.
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.
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.
Many people with Huntington's disease have problems sleeping. Sleep-wake cycles are controlled in part by melatonin, a hormone that makes you drowsy at bedtime. Scientists in London measured melatonin levels in HD patients, gene carriers, and unaffected individuals and found changes in the levels and timing of melatonin release. This could help to explain the sleep disruptions that occur in HD.
A study looking for links between diet and symptom onset in Huntington's disease has unexpectedly found that people who developed symptoms earlier tended to consumed more dairy products. We look at the study in detail -- and why we're not hanging up the cheese-knife just yet.
The brain is a very hungry organ, but does it consume energy differently in Huntington's disease? A team led by David Eidelberg of the Feinstein Institute for Medical Research has been studying the patterns of energy consumption in the brains of people carrying the HD mutation. Changes in how much sugar the brain uses are seen even before the brain starts to change physically, suggesting this might be a useful thing to track in HD clinical trials.
The Huntington's disease genetic test involves counting the number of CAGs at the start of the HD gene. Some results are in a 'gray area' - larger than normal but smaller than the range that causes HD. Now, by closely studying people with CAG counts in the intermediate range, the PHAROS study has found some subtle differences in mood and behavior. These results don't mean that intermediate CAG counts cause HD, but they do suggest they may have some effects on the brain, which need to be studied in more detail.
If we find a therapy that we hope can slow down Huntington's disease, how can we prove that it works in patients? What tests should we do and how long should we follow people up after treatment in order to see any real benefits? A major new paper from Sarah Tabrizi and colleagues, reporting the final outcomes of the TRACK-HD study, provides information that will help us better design trials of new therapies in HD as well as understand how the disease progresses.
Is access to 'predictive' genetic testing for Huntington's disease a problem? Research from University of British Columbia researchers suggests that it is, at least in Canada. We explore the problem and possible solutions.
With gene silencing therapies heading towards the clinic, a new question has arisen - how will we know if they work? How can we tell if the amount of huntingtin protein is lowered in people? New work from London and Basel demonstrates that the huntingtin protein is detectable in blood samples, and that its levels change during the course of HD.