Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.
If media reports of a "wonder-drug" that could "stop all neurodegenerative brain diseases, including dementia” seem too good to be true, that's because they are. The truth behind the headlines is that researchers tested thousands of already-licensed drugs in worms, and a couple that went on to show beneficial effects in mouse models of two rare forms of dementia. While it gives researchers two new leads, this research doesn't prove anything about these drugs in patients with neurodegenerative diseases, and has virtually nothing to do with Huntington's disease at all.
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.
Clumps of mutant huntingtin protein in brain cells are a hallmark of HD, and they build up slowly, occupying more and more cells over time. Recent research in mice shows that the harmful proteins can travel between neurons, setting off a chain reaction that leads to more sick cells and the development of symptoms.
It’s like gardening gone wrong: scientists can sprinkle Huntington’s protein on the outside of laboratory-grown brain cells and make sticky, potentially harmful protein clumps grow inside the cells. Now, new research showing that human brain fluid does the same thing could help us monitor Huntington's disease.
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.
The growth factor 'BDNF' usually sends a “Survive!” signal to brain cells. In Huntington’s Disease (HD), this system doesn’t work as it should, so scientists have been looking for ways to boost the signal. Enter one of nature’s most useful tools: the antibody. Usually antibodies play an important role in the immune system, but researchers have identified two antibodies, produced by the company Pfizer, that can act like a set of spare keys to activate the TrkB receptor. This unlocks the door to determining whether a boost in TrkB activity is enough to prevent neurons from dying, in hopes of slowing the progression of HD.
Scientists can now reprogram human skin cells to make working cells that resemble 'medium spiny neurons', the type of brain cell that is most affected early in Huntington's disease. We're still a long way off from being able to replace the brain cells that are being lost in HD, but this research is an important step down that path, and is a great tool to study HD.
Huntington’s disease is caused by the accumulation of the toxic mutant huntingtin (mHTT) protein. This means that decreasing levels of mHTT, by boosting its breakdown, could be therapeutically beneficial. Palacino and colleagues have identified a possible contender for this role: negative regulator of ubiquitin-like protein 1, better known as NUB1.