Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.
Recent days have seen a slew of news emerging regarding the use of something called genome editing as a potential therapy for genetic diseases like Huntington's Disease. These approaches, which include exotic sounding tools like zinc finger nucleases and CRISPR/Cas9, differ from more traditional ways reducing the impact of the HD mutation on cells. What's new in this exciting area of research?
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!
New therapies for disorders like Huntington’s disease are on the way, but getting the drugs to enter brain cells can be a major challenge. A group of scientists has redesigned and tested a harmless virus that can efficiently deliver a 'gene silencing' message throughout the brain in mice, much further than naturally occurring viruses can reach. What's more, it can be given with a simple injection into the blood, offering great potential for research in gene silencing research and beyond.
Researchers have found a connection between HD and an energy-regulating protein called PPAR-delta. Giving PPAR-delta a boost with an existing drug was protective in HD cells and mice, but we’ll likely need to research and test it further before it can go to the HD clinic.
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.
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.
What happens when you have a broken part in a machine? You fix it! A new study shows that increasing the activity a critical piece of machinery called ‘mTORC1’ in a mouse model of Huntington’s disease leads to improved motor problems and brain abnormalities associated with the disease. These recently published findings may offer scientists a new target for therapeutic development in HD.