A team of researchers at Penn’s Perelman School of Medicine has found a new, rare form of dementia with similarities to Alzheimer's disease.
The newly discovered disease — which researchers are calling Vacuolar Tauopathy — could be targeted for new therapies for neurodegenerative diseases, Penn Medicine News reported.
Alzheimer's disease is a progressive disorder that causes brain cells to degenerate and die, leading to severe memory loss which is the most notable symptom. Alzheimer’s disease and similar neurodegenerative diseases are associated with the abnormal buildup of proteins, called tau proteins, in certain parts of the brain, Penn Medicine News reported.
In the new study, which was published on Oct. 1 in the journal Science, was led by Edward Lee, an assistant professor of Pathology and Laboratory Medicine at Penn Med, and Nabil Darwich, MD/Ph.D. student in Penn's Neuroscience Graduate Group.
The research team found that VT is caused by a rare mutation in the gene coding for the Valosin-containing protein, which is involved in breaking apart protein aggregates, Penn Medicine News reported. The mutation inhibits the activity of VCP, impairing its ability to break protein aggregates apart.
The team of researchers set out to determine how this new mutation could be used to find treatments for similar neurological diseases, Penn Medicine News reported.
“Given that this mutation inhibits VCP activity, that suggests the converse might be true — that if you're able to boost VCP activity, that could help break up the protein aggregates,” Lee told Penn Medicine News.
Lee added that their research may help researches break up tau protein buildups to treat Alzheimer's disease and other related neurodegenerative diseases.
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