American researchers have described a rare genetic form of dementia. The article about the rare form of dementia, prepared by employees of the Perelman Medical School at the University of Pennsylvania, was published in the authoritative edition of Science.
The scientists analyzed biological samples of a dead person suffering from an unidentified neurodegenerative lesion and drew attention to a mutation in a gene that encodes the VCP protein in brain cells. The genetic feature provokes a neurodegenerative disease called vacuolar tauopathy (VT).
“It is a mutation that impairs the ability of proteins to break up the aggregation bonds in brain cells. Carriers of VCP mutation can become victims of a rare form of dementia”, – said Dr. Edward Lee, a medical scientist.
The discovery, as Lee noted, is important both in itself and in the context of neurophysiological research that aims to understand the nature of dementia and develop new ways to treat dementia. “VCP protein activity can be both suppressed and amplified, in which case we can use these protein structures to treat Alzheimer’s disease and other neurodegenerative diseases,” explained the authors of the scientific paper.