Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.
Hi everyone! It's the annual Huntington's Disease Therapeutics Conference in Malta. Around 350 scientists from round the world all working on HD are gathered here to discuss the latest research developments. We're reporting live via twitter and aggregating our updates into daily articles.
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.
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...