|Normal brain (left) compared to brain of Huntington's Disease patient (right).|
Huntington’s disease is an inherited disorder that damages nerve cells in the brain. The disease causes the brain to deteriorate which results in behavioral and cognitive problems as well as uncontrolled movements. Around 30,000 people in the United States have Huntington’s disease, and approximately 200,000 people in the United States are at risk of inheriting the disease. Currently, there is no cure for the disease and there is no way to stop the disease from progressing further. Researchers from the University of Florida have found that the gene that causes Huntington’s disease “makes an unexpected cocktail of mutant proteins that accumulate in the brain”. The identified mutant proteins were found to kill neurons and build up in particular parts of the brain associated with the disease. The researchers examined the brains of 12 deceased Huntington’s patients and found four proteins known as RAN proteins which contribute to the disease. RAN proteins each consist of long repeats of particular amino acids. Dr. Laura Ranum, director of the center for Neurogenetics at the University of Florida explained that these RAN proteins are “too long for cells to deal with and they build up as aggregated clusters that kill cells”. Researchers believe that there is a strong possibility that the four RAN proteins found could contribute to Huntington’s disease. The RAN proteins were found in the frontal cortex, the cerebellum, and also various white matter regions of the brain. Banez Coronel, who worked on the study stated that this is the first time that proteins related to Huntington’s disease were found in white matter. Researchers also believe that there is a strong chance that RAN proteins may be linked to eight other types of neurodegenerative diseases such as spinobulbar muscular atrophy. Despite the new findings, researchers believe that further research still needs to be conducted in order to understand how RAN proteins are made and if the production of these proteins can be blocked.
It was interesting to learn that the four RAN proteins found in the brains of Huntington’s patients may also be linked to eight other neurodegenerative diseases. It will be interesting to see if researchers in the future will be able to block the production of RAN proteins in order to stop the disease from progressing. Although more research still needs to be conducted, I think that these new findings will play a key role in better understanding Huntington’s disease and hopefully one day finding a cure for the disease.