The huntingtin-lowering drugs in clinical trials right now are focused on attacking mutant huntingtin on the RNA level – essentially destroying the recipe that makes the toxic huntingtin protein. But scientists are constantly searching for new huntingtin-lowering strategies, including ones to help brain cells clean up the toxic protein that has already built up. Cells have a disposal system called autophagy that they use to package up and get rid of worn-out, damaged, or harmful materials. Recently, a group of scientists reasoned that if they could help bring the autophagy machinery and the toxic huntingtin protein together, cells would take out the trash much faster. The researchers searched for existing chemical compounds that had this effect – attracting the trash and the trash bins to the same spot. Incredibly, they found two compounds that helped clear away mutant huntingtin protein, while leaving the healthy form intact. They saw improvements in HD patient cells, HD flies, and HD mice after treating with these drugs. More thorough testing will need to be done in animals before this strategy could be considered as a treatment in humans, but the research is innovative, and the findings are encouraging. If you want to read more, check out this article in which a prominent geneticist reviews the work.
The Enroll-HD Quarterly Newsletter
The global observational Huntington’s disease study Enroll-HD has reintroduced its quarterly newsletter. The most recent issue contains a great summary of what’s going on with the study, which now has more than 19,000 active participants worldwide. Articles cover the benefits of getting involved in research early, how scientists are actually using the data collected from participants in HD families, the experiences of young people starting Enroll, and upcoming and ongoing related studies. HDSA highly encourages participation in Enroll-HD: the knowledge gained will benefit generations of HD families, and the data is closely examined by the academic and industry researchers who are designing drugs for HD.
This Week in HD Research History
In early November of 1985, several years before the location of HD gene was discovered, neurologist Dr. Jean-Paul Vonsattel and colleagues published a classification system to understand HD pathology, or how the brain is affected by the disease. Providing a standardized way to examine a donated HD brain after death helped to link symptoms with signs of damage in the brain. If you’re interested in learning more about brain and organ donation for HD research, please contact the Brain Bank at McLean Hospital and mention the HD Legacy project.