Scientists Discover a Rare Genetic Form of Dementia

A study published in Science details the discovery of a rare genetic form of dementia, and a new mechanism for the accumulation of protein in the brain that could be targeted for new types of treatment, reports Technology Networks . Researchers found a unique mutation in the Valosin-containing protein (VCP) gene in the brain, an accrual of tau proteins in areas that were deteriorating, and neurons with gaps in them. The team christened this disorder Vacuolar Tauopathy (VT), a neurodegenerative condition now marked by the build-up of neuronal vacuoles and tau protein aggregates. The investigators said the tau protein they saw accumulating closely resembled the tau protein aggregates observed in Alzheimer's disease. They initially studied the proteins themselves, in addition to cells and an animal model, and learned that the build-up is underpinned by the VCP mutation. "Given that this mutation inhibits VCP activity, that suggest the converse might be true — that if you're able to boost VCP activity, that could help break up the protein aggregates," said University of Pennsylvania Professor Edward Lee. "And if that's true, we may be able to break up tau aggregates not only for this extremely rare disease, but for Alzheimer's disease and other diseases associated with tau protein aggregation."