This study finds a new type of dementia

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In a recent study at Penn Medicine, researchers have discovered a new, rare genetic form of dementia.

This discovery also sheds light on a new pathway that leads to protein build up in the brain—which causes this newly discovered disease, as well as related neurodegenerative diseases like Alzheimer’s Disease—that could be targeted for new therapies.

The study is published in Science. One author is Edward Lee, MD, Ph.D.

Alzheimer’s disease (AD) is a neurodegenerative disease characterized by a buildup of proteins, called tau proteins, in certain parts of the brain.

In the study, the team examined human brain tissue samples from a deceased donor with an unknown neurodegenerative disease.

They discovered a novel mutation in the Valosin-containing protein (VCP) gene in the brain, a buildup of tau proteins in areas that were degenerating, and neurons with empty holes in them, called vacuoles.

The team named the newly discovered disease Vacuolar Tauopathy (VT)—a neurodegenerative disease now characterized by the accumulation of neuronal vacuoles and tau protein aggregates.

The researchers noted that the tau protein they observed building up looked very similar to the tau protein aggregates seen in Alzheimer’s disease.

With these similarities, they aimed to uncover how this VCP mutation is causing this new disease—to aid in finding treatments for this disease and others.

Rare genetic causes of diseases can very often offer insight into more prevalent ones.

The researchers first examined the proteins themselves, in addition to studying cells and an animal model, and found that the tau protein buildup is, in fact, due to the VCP mutation.

They found a pattern they had never seen before, together with a mutation that had never been described before.

Given that this mutation inhibits VCP activity, the team says that it suggests the converse might be true—that if you’re able to boost VCP activity, that could help break up the protein aggregates.

And if that’s true, scientists 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.

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