Science: Discovery of a rare dementia gene opens up new avenues for treating diseases such as Alzheimer's disease.

Alzheimer's disease (AD), commonly known as Alzheimer's disease, is a type of degenerative lesions of the central nervous system that occur mainly in the elderly and are characterized by sexual cognitive impairment and behavioral impairment.
clinical manifestations are memory impairment, aperformation, misalmishment, disrecoction, impairment of visual spatial ability, impairment of abstract thinking and computational power, personality and behavior change, etc.
with social progress, the average life expectancy of human beings has increased, and the prevalence of Alzheimer's disease is also rising.
people with dementia have difficulty living on their own, which places a great burden on families and society.
, the scientific community has not yet deciphered the specific mechanisms of the onset of Alzheimer's disease, let alone developed treatments and drugs.
recently, researchers at the Perelman School of Medicine at the University of Pennsylvania published a research paper in the journal Science entitled Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau.
found a new, rare dementia gene.
findings also shed light on new ways to cause tau proteins to form in the brain, opening the way for Alzheimer's disease and other other neurodegenerative diseases associated with it! As a neurodegenerative disease, Alzheimer's disease is characterized by the accumulation of a protein called tau in certain parts of the patient's brain.
Normally, tau proteins in the brain bind to micro-tube proteins and promote their polymerization into micro-tubes, while tau proteins in the brains of Alzheimer's patients are abnormally over-phosphating and lose normal biological function.
studies have shown that specific autosomal explicit mutations can lead to the production or aggregation of the pathological tau protein associated with Alzheimer's disease.
, however, little is known about which endogenetic decomposition factors play a leading role in neurodegenerative diseases.
In the study, researchers examined brain tissue samples from deceased donors with unknown neurodegenerative diseases and found a new mutation in the gene containing casein (VCP) in the brain, in which the patient's degenerative brain region produces pathological tau protein and forms a neuron hole, also known as a vacuole.
VCP mutation genealogy map and chromosomal location research team named the newly discovered disease Vacuolar Tauopathy (VT), a neurodegenerative disease characterized by neuron empty bubbles and tau protein aggregation.
It is worth mentioning that VCP is an important gene expressed in central nervous system cells, and its encoded VCP protein is part of the AAA-plus protein family (ATP enzyme associated with multiple cellular activity), which uses the energy generated by ATP hydrolyzing to isolate proteins from various large molecular complexes.
VCP protein structural models, as dr Edward Lee, the study's co-author, put it: "In cells, proteins come together and need a process to separate them, otherwise everything sticks together and doesn't work, and VCP is often involved in this process."
, we think this mutation destroys the VCP protein's ability to break down aggregates.
" researchers also said they observed a very similar tau protein aggregate to those observed in Alzheimer's disease.
based on these similarities, the team further explored the pathological aggregation of the Tau protein found that the VCP mutation could lead to tau protein, and tried to use it as a basis for finding a cure for the disease and other neurodegenerative diseases.
VT's tau protein aggregates are very similar to AD's tau protein aggregates", "We found a pattern of neurodegenerative disease that has never been seen before, and a mutation that has never been described before, and rare genetic diseases can often help us understand and treat more common diseases," edward Lee said.
if the VCP mutation causes tau protein aggregation to induce neurodegenerative diseases, can the process be reversed in turn by promoting VCP activity?" he said. Therefore, the development of VCP-targeted drugs will be a highly promising treatment pathway, and is expected to slow the progression of the disease in patients or even completely reverse neurodegenerative diseases such as Alzheimer's disease.
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