Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.
When the ‘healthy’ HD gene functions as it should, one of its many jobs is in the development of normal embryos. Researchers have long assumed that the ‘mutant’ HD gene inherited by people with HD is still able to do this job, since HD patients develop normally and don’t show signs until later in life. A surprising new finding suggests we may have to think carefully about this assumption!
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.
Though many scientists have focused on damage to a part of the brain called the striatum as a source of HD symptoms, this is a narrow picture of what changes in the brain during HD. A new book provides a summary of many research techniques over a hundred years that have led to a more complete image of HD as a disease affecting the entire brain.
New work in brain diseases like Alzheimer's suggests that brain cells called neurons might be 'catching' the sickness from their neighbors. A recently published paper suggests that, in very specific lab conditions, this might also happen in Huntington's disease. What does this mean for what we know about HD, and how to treat it?
We know that the cause of Huntington's disease is a genetic change, resulting a harmful protein: mutant huntingtin. But other proteins can get dragged into the fray and contribute to the problems faced by HD-affected cells. New research suggests that a rather notorious protein, called 'tau' – a known troublemaker in other degenerative brain diseases – builds up and causes damage in HD.
Studies have shown that HD patients tend to get less efficient sleep, fewer hours of sleep, and wake up more times during the night. However, sleep in Huntington’s is under-researched because historically scientists have investigated HD as a disease of movement impairment, and sleep problems don’t seem to have anything to do with movement impairment.
Many people in the Huntington's disease community have noticed reports highlighting a recent study from the University of Leicester, which the BBC claimed "could treat Alzheimer's, Parkinson's, Huntington's and other diseases". The underlying study is well-executed research of some importance. However, the press hype is out of all proportion to the impact of this research. What does this study actually show, and what does it mean for HD?
Gene silencing drugs, which tell cells to stop making the harmful huntingtin protein, are among the top approaches being worked on to fight Huntington's disease. A human trial in motor neuron disease using 'ASO' gene silencing drugs has just shown the drugs and delivery method to be safe, boosting plans to get clinical trials of these drugs up and running in HD.
DNA/RNA-binding proteins, a fancy type of protein that 'guards' the genetic instructions running brain cells, are known to be important in diseases like Alzheimer's and motor neuron disease. New research suggests that these proteins could be key players - and lead to new treatment options - in Huntington's disease as well.