Researchers at Massachusetts Institute of Technology (MIT) and Harvard Medical School have identified a compound that interferes with the pathogenic effects of Huntington's disease, a discovery that could lead to development of a new treatment for the disease.
There is no cure for Huntington's, a neurodegenerative disorder that now afflicts 30,000 Americans, with another 150,000 at risk. The fatal disease, which is genetically inherited, usually strikes in midlife and causes uncontrolled movements, loss of cognitive function and emotional disturbance.
"There are now some drugs that can help with the symptoms, but we can't stop the course of the disease or its onset," said Ruth Bodner, lead author on a paper appearing in the Proceedings of the National Academy of Sciences (PNAS). Bodner is a postdoctoral fellow in MIT's Center for Cancer Research.
The compound developed by Bodner and others in the laboratories of MIT Professor of Biology David Housman, Harvard Medical School Assistant Professor Aleksey Kazantsev and Harvard Medical School Professor Bradley Hyman might lead to a drug that could help stop the deadly sequence of cellular events that Huntington's unleashes.
"Depending on its target, any one compound will probably block only a subset of the pathogenic effects," Bodner said.
Huntington's disease is caused by misfolded proteins, called huntingtin proteins, that aggregate and eventually form large clump-like "inclusions." The disease is characterized by degeneration in the striatum, an area associated with motor and learning functions, and the cortex. The proteins may disrupt the function of cellular structures known as proteasomes, which perform a "trash can" function for the cell - disposing of cellular proteins that are misfolded or no longer needed, said Bodner.
Without a functional proteasome, those cellular proteins accumulate, poisoning brain cells and impairing patients' motor and cognitive function.