Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.
Huntingtin, the protein responsible for Huntington’s disease, is fundamentally important for fetuses to develop in the womb, but we don’t know yet exactly what part it plays in this intricate process. Normally, neurons start life deep within the developing brain, migrate out to the surface and then make a network of connections with others, but Sandrine Humbert’s group showed that those without huntingtin get stuck, never making it to where they need to go. Neurons with mutated huntingtin are no better than those that lack it completely. However, reintroducing normal huntingtin, or the proteins through which it acts, allows neurons to migrate normally again, offering tantalising new ways to treat Huntington’s disease.
Researchers have long known that patients with a greater number of CAG repeats in their HD gene tend to display motor symptoms sooner than those with fewer CAG repeats. However, this relationship is not perfect. Sometimes HD patients display symptoms at a drastically different time than expected based on the number of CAG repeats alone, suggesting that maybe other genetic or environmental factors speed up or slow down the progression of HD. A recent study suggests that comparing patients with the most ‘extreme’ motor symptoms may help to uncover exactly what these factors are.
Researchers have long believed that the Huntington's disease gene causes problems by telling cells to make a harmful protein. Intriguing new animal work from researchers in Spain suggests we might want to look at more than one suspect to completely fix the problems caused by the HD mutation.
Pfizer has announced that the first-pass analysis of its 'Amaryllis' trial, testing a PDE-10 inhibitor drug, shows the drug did not meet its target of improving Huntington's disease symptoms. As a result, the open-label extension study will be stopped. This is not the news we'd been hoping for, but we've learned a lot about HD along the way.
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?
A recent press release from Teva Pharmaceuticals has the HD community excited, claiming "Pridopidine Demonstrates Slowing of Progression of Huntington Disease in PRIDE-HD Study". What's pridopidine, and what can we really say about HD progression in patients treated with it?
Here's our roundup of all the science presented at the 2016 European Huntington's Disease Network biennial meeting - one of the biggest meetings of Huntingtons Disease families, scientists and care professionals.
A relatively new technology called exome sequencing has identified a few families with novel mutations in their HD genes. These are different than the mutation that causes HD, but allow researchers to better understand the normal role of the HD gene.
A scientific paper declares positive results for a trial of deutetrabenazine in Huntington's disease, but the headlines report the FDA has rejected the drug. Confusing stuff! The reality is positive overall for this new way of treating uncontrollable movements in HD, but patience will be needed to see where it all ends up.