Scientists at the University of Pennsylvania in the United States have discovered a rare genetic form of dementia. The discovery will clarify the mechanisms behind the development of fatal and incurable Alzheimer's disease. This is reported in an article published in the journal Science.
The researchers analyzed brain tissue samples from a person who died from an unknown neurodegenerative disease. They identified a mutation in a gene that encodes a valosin-containing protein (VCP), as well as accumulations of tau proteins in damaged areas and neurons with empty cavities (vacuoles). Based on the observed violations, scientists called the disease vacuolar tauopathy (English Vacuolar Tauopathy).
Valosin-containing protein prevents the formation of protein aggregates within cells, but the mutation disrupts the normal functioning of the VCP. The tau protein aggregates were very similar to those formed in Alzheimer's disease. Scientists hope that the mechanisms they have identified will help understand the nature of incurable forms of dementia and develop effective methods to combat them.
