One of the telltale signs of Huntington’s disease is the clumps of huntingtin protein that build up all over the brain. It’s a bit like what would happen to a city if the garbage collectors went on strike. But until the discovery of the HD gene and the development of ways to visualize huntingtin protein, there was no way for researchers to see this pile-up of trash. In late September of 1997, a group of scientists at Massachusetts General Hospital published a paper that actually contained images of mutant huntingtin clumps – called aggregates – in brain tissue that had been donated by the families of HD patients after their deaths. You can read the paper’s scientific abstract (a summary) here. It was an important step towards understanding that the buildup of huntingtin protein in the brain could be toxic – and this is the idea behind all of today’s huntingtin-lowering approaches. Author Dr. Neil Aronin serves on HDSA’s scientific advisory board, and HDSA continues to support researchers under the training of Dr. Jean-Paul Vonsattel.
HD Legacy: Brain Donation for HD Research
Speaking of monumental discoveries made possible by HD families, HDSA is collaborating with CHDI to support the donation of brain and other organs to enable cutting-edge Huntington’s disease research. A brain donation is an extraordinary gift in the name of science and medicine that can contribute to the greater knowledge and the greater good of the HD community.
This new program, called HD Legacy, encourages the donation of brain and other tissues from HD gene carriers, at-risk individuals, and healthy family members. The Harvard Brain Tissue Resource Center (HBTRC) will assist interested families throughout the process. Families will bear no costs associated with the donation, all conversations are confidential, and the commitment is non-binding.
Brain donation is a very personal decision. To learn more you can call the HBTRC at 1-800-272-4622 or visit the HBTRC website. You can also view a printable postcard with step-by-step instructions and frequently asked questions.