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    Home > Active Ingredient News > Study of Nervous System > [Study] Behind the "good mutation": Gene variant can prevent Alzheimer's disease?

    [Study] Behind the "good mutation": Gene variant can prevent Alzheimer's disease?

    • Last Update: 2022-03-07
    • Source: Internet
    • Author: User
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    This article is original for Translational Medicine.
    Please indicate the source for reprinting Author: Ashley Introduction: "Mutation" rarely conjures up positive things, but it is not impossible
    .

    Recent studies have found that mutations in the brain's immune cells play an active role in protecting people against Alzheimer's disease
    .

    Microglia are closely related to the development of Alzheimer's disease (AD)
    .

    The study focused on a variant of the PLCG2 gene that makes instructions for the production of an enzyme important to microglia, the immune cells of the brain
    .

    While the word "mutation" may conjure up a worrying concept, mutations in the brain's immune cells play an active role in protecting people against Alzheimer's disease
    .

    Now UC Irvine biologists have discovered the mechanism behind this crucial process
    .

    Their paper, published in Alzheimer's and Dementia, is titled "The P522R protective variant of PLCG2 promotes the expression of antigen presentation genes by human microglia in an Alzheimer's disease mouse model"
    .

    The study focused on a variant of the PLCG2 gene that makes instructions for the production of an enzyme important to microglia, the immune cells of the brain
    .

    "Recently, this mutation, known as P522R, was shown to reduce the risk of developing late-onset Alzheimer's disease," said Hayk Davtyan, Ph.
    Risk
    .

    " The project was led by Christel Claes, Ph.
    D.
    , assistant project scientist, first author on the paper
    .

    The scientists used CRISPR gene-editing technology to create protective mutations in human stem cells, and then implanted those stem cell-derived microglia into a humanized rodent model of Alzheimer's disease
    .
    "Our study shows for the first time that the P522R
    variant increases the expression levels of some microglial genes that are reduced in Alzheimer's patients," Davtyan said
    .

    A possible reduction in Alzheimer's disease risk provides some preliminary evidence
    .

    " The variant also increased the number of T cells (white blood cell immune system cells) in the brain, suggesting that it may increase activation of other important aspects of immune function
    .

    The results will help design further studies to understand exactly how microglia and T cells interact to slow the progression of Alzheimer's disease
    .

    "Beyond this, the next step may be to identify drugs that can safely increase the enzymatic activity of PLCG2 and further promote protective microglia function," he said
    .

    First author Christel Claes wondered if TREM2-stimulating antibodies would be like the current Alector (AL002), an antibody in a phase 2 clinical study that exerts similar protective effects as the P522R variant in Alzheimer's patients
    .

    "The PLCG2 P522R mutation is known to increase Alzheimer's disease risk variant TREM2 downstream signaling, so it would be very interesting to investigate the effect of TREM2-stimulating antibodies on microglia-T cell crosstalk," Davtyan said.

    Studies
    like ours Paving the way for new strategies to treat or prevent this disease that is taking such a toll on humanity is what drives us as neuroscientists
    .

    ” Reference: https://medicalxpress.
    com/news/2022 -02-good-mutation-gene-variant-alzheimer.
    html Note: This article aims to introduce the progress of medical research and cannot be used as a reference for treatment plans
    .

    For health guidance, please go to a regular hospital for treatment
    .

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