Science: A rare form of dementia has --- of empty bubble tau protein disease.

Oct 10, 2020 /--- In a new study, researchers from the Perelman School of Medicine at the University of Pennsylvania, the University of Athens in Greece and the Athens Medical Center found a new rare genetic form of dementia.
findings also reveal a new way to cause proteins to accumulate in the brain, which could be a target for developing new therapies.
protein build-up in the brain can cause this newly discovered disease, as well as associated neurodegenerative diseases such as Alzheimer's disease (AD).
the results were published online October 1, 2020 in the journal Science under the title "Autosomal dominant VCP hypomorph mutation impaireds disaggregation of PHF-tau".
from Science, 2020, doi:10.1126/science.aay8826.
Alzheimer's disease is a neurodegenerative disease characterized by the accumulation of tau proteins in certain parts of the brain.
The researchers examined samples of human brain tissue from a dead patient with an unknown neurodegenerative disease and found new mutations in the brain's Valosin-containing protein(VCP) gene, a build-up of tau proteins in degraded brain regions, and empty bubbles in neurons.
they named the newly discovered disease Vacuolar Taupathy (VT) ---, a neurodegenerative disease characterized by the accumulation of neuron empty bubbles and tau protein aggregates. Dr Edward Lee, co-author of the
paper and an assistant professor of pathology and laboratory medicine at the University of Pennsylvania's Perelman School of Medicine, said: "In cells, where proteins come together, you need a process that separates them because otherwise everything is blocked and can't work.
role of VCP is to find the proteins that come together and separate them.
believe that mutations impair the protein's normal ability to remove protein aggregates.
" the researchers noted that the tau protein build-up they observed appeared to be very similar to the tau protein aggregates seen in Alzheimer's disease.
these similarities, and their goal is to find out how this VCP mutation causes this new disease in order to help find treatments for the disease and other diseases.
genetic causes of rare diseases can often provide new insights into more common diseases.
in addition to studying cellular and animal models, the researchers first looked at the protein itself and found that in this newly discovered disease, the accumulation of tau proteins was actually caused by mutations in VCP.
, "What we found in this study is a pattern we've never seen before, plus a mutation that's never been described before," Lee said.
given that this mutation inhibits VCP activity, this suggests that the reverse may be true--- if you can increase VCP activity, it can help break down protein aggregates.
If this is true, we may be able to break down not only tau protein aggregates in this extremely rare disease, but also tau protein aggregates in Alzheimer's disease and other diseases associated with tau protein aggregation.
" (bioon.com) Reference: 1.Nabil F. Darwich et al. Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau. Science, 2020, doi:10.1126/science.aay8826.2.Researchers discover a rare genetic form of dementia.