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    Home > Active Ingredient News > Study of Nervous System > Nat Commun: What gene mutations make us more susceptible to Alzheimer's disease?

    Nat Commun: What gene mutations make us more susceptible to Alzheimer's disease?

    • Last Update: 2021-06-16
    • Source: Internet
    • Author: User
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    So far, in addition to mutations in the two subunits of γ-secretase, PSEN1, PSEN2 genes, and amyloid precursor protein gene (APP), multiple loci related to Alzheimer's disease (AD) have been successively identified.
    What people found
    .


    The most prominent locus, APOE, was detected using linkage technology nearly 30 years ago


    GWAS

    Currently, there are more than 50 million people with dementia in the world, and the global cost of dementia far exceeds US$1 trillion
    .


    This means that there is an urgent need to effectively test the interventions being developed, both medically and economically


    In a recent work, researchers aim to understand and expand the knowledge of the genetic map of AD, and provide additional evidence that the PRS of the variant can be a powerful tool to help people choose high AAOs with earlier AAO.
    Individuals at risk
    .

    The researchers first conducted a large-scale genetic association study by merging all available case-control data sets and proxy research results (number of people found = 409,435, number of validators = 58,190)
    .

    The genetic map of Alzheimer's disease

    The genetic map of Alzheimer 's disease The genetic map of Alzheimer's disease

    In this study, the researchers added six variants related to the risk of Alzheimer's disease (two exon variants near APP, CHRNE, PRKD3/NDUFAF7, PLCG2, and SHARPIN genes)
    .


    The evaluation of the polygenic risk score and the stratification according to APOE showed that the median age of onset of Alzheimer's disease patients with APOEɛ4 varies from 4 to 5.


    Added six variants related to the risk of Alzheimer's disease (close to two exon variants of APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and SHARPIN genes) added six variants related to the risk of Alzheimer's disease Variants (two exon variants near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and SHARPIN genes)

    Based on this research, people can study the basic mechanism of APP to improve the understanding of the amyloid cascade.


     

    Original source:

    Original source:

    Itziar de Rojas et al.


    Itziar de Rojas et al.


     

     

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