Huntington disease, an inherited neurological disorder affecting nearly 8 persons in every 100,000 people, around the world, is a result of a mutation in the gene called Huntington gene. Scientists from the Mass General Institute for Neurodegenerative Disease (MIND) have unearthed the mechanism behind the death of brain cells in patients suffering from this disease.
A protein produced by the mutated gene interferes with a protein that is responsible for cellular energy metabolism. The study revealed that degeneration of brain cells occurs mainly because of the disruption of energy metabolic pathways that are essential for the survival of brain cells, by the mutant Huntington gene. This discovery could help the scientists to reverse the disruption of energy metabolism in Huntington disease, by developing new compounds that could correct the protein dysregulation.