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 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.
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.
If it's February, that means the the world's leading scientists are converging on Palm Springs for the annual HD therapeutics conference!
We present Buzzilia, video 1: news highlights and in-depth interviews with top HD researchers from the World Congress on Huntington's disease 2013 in Rio de Janeiro. On the opening day of the Congress, Jeff and Ed review the major developments since the last World Congress in 2011, and talk to Prof Elena Cattaneo from Milan, Italy, about the huntingtin protein.
The huntingtin protein, which in its mutant form causes Huntington's disease, is difficult to study because it forms clumps rather than neat crystals. Now, young HD researcher Gwen Owens of California Institute of Technology is reaching VERY high to try to crack the problem. In a special video interview screened at the recent HD World Congress, HDBuzz spoke to Gwen about her 'out-of-this-world' plans...
Figuring out how the mutant huntingtin protein causes damage is the central problem of Huntington's disease research. Now a team of Canadian researchers led by Dr Ray Truant has shown that the protein has an important 'hinge' function, which works less well in cells with the HD mutation. Exciting stuff, but contrary to what you might have read, it doesn't mean we no longer need to study mice!
Researchers are hard at work figuring out exactly how the expanded Huntington's disease gene causes harm. Recent work from a UK group has uncovered another clue to help solve the mystery. It turns out that faulty processing of the huntingtin 'recipe' produces a short, harmful fragment of the huntingtin protein.
Our first daily report from the annual Huntington's Disease Therapeutics Conference in Venice, Italy. We'll be bringing you live updates via Twitter over the next two days. You can use HDBuzz.net, comment on Facebook or tweet @HDBuzzFeed to send us questions, comments and queries.