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    Home > Active Ingredient News > Study of Nervous System > Alzheimer's and Dementia: Genetic mutations affect the development of Alzheimer's disease

    Alzheimer's and Dementia: Genetic mutations affect the development of Alzheimer's disease

    • Last Update: 2020-12-12
    • Source: Internet
    • Author: User
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    December 9, 2020 // -- Late-onset Alzheimer's disease (LOAD) is the most common form of dementia among older people, affecting nearly 44 million people worldwide.
    despite decades of research, it is not clear what makes individuals susceptible to LOAD genetic factors.
    with the growing elderly population in the United States and many other developed countries, there is an urgent need for precise prognosmical biomarkers and viable treatment options.
    addition to old age, variations in the lipoprotein E (APOE) gene are also important predictive indicators of disease risk.
    people who carry the mutation are at higher risk of developing Alzheimer's disease, while those who carry the mutation are usually protected.
    surprised that many people don't follow these rules, which confuses researchers.
    people with APOEɛ4 disease are still disease-APOEɛ2, while some carriers develop the disease.
    (Photo: www.pixabay.com) Baylor Medical School and Texas Children's Hospital used a novel method to examine the genomes of these "rule-breaking" people to identify 216 new genetic variants, many of which had not previously been suspected of playing a role in the disease.
    this is the first step in understanding this paradox.
    newly identified biomarkers may in the future be used to improve risk assessment and patient prognostication in the APOEɛ2 and APOEɛ4 carrier populations and to target the treatment of this incurable disease.
    the study was published in Alzheimer's disease and dementia by Olivier Lichtag and Juan Bottas, professor of molecular and human genetics at Dr. Baylor School of Medicine and researchers at the Jan Dan Duncan Institute for Neuroscience at Texas Children's Hospital.
    We wanted to test whether people who showed contradictory results might have other genetic variants that reduced the risk or protective effect of the APOE genotype they carried, " said Lichtalg.
    to find these mutations, Young Won Kim, a graduate student in my lab, designed a new algorithm to compare and compare the genetic variations that exist in each patient.
    " LOAD's extensive clinical manifestations and complex genetic patterns, as well as its coexistence with other neuropathology, heart-related diseases, and age-related cognitive impairments, are particularly challenging for scientists to discover some of the reasons for the paradox APOEɛ2 and ɛ4 patients.
    In this study, the researchers used the largest complete exon group dataset available for this situation, "To screen potential candidate variants, I focused on the coding regions of the human genome and assessed the functional effects of genetic variation by taking into account all past evolutionary changes at the same gene location."
    Through a series of regression analyses, we found genes with significant differences in mutation load between 216 conflicting patient groups, many of which are involved in known Alzheimer's pathways, such as synact biology, synth pruning, and inflammatory responses in the brain, and machine learning algorithms to predict which APOEɛ4 carriers will remain healthy and which APOEɛ2 carriers will develop dementia based on the 216 genes they carry APOEɛ2
    next step for the researchers was to test the biological correlation between these 216 gene variants in changing the pathogenesis of Alzheimer's disease.
    () Source: Novel gene variants that modify the source of the modified risk of late-onset Alzheimer's disease foundeded: Young Won Kim et al, Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 identify to genetic modifiers in Alzheimer's disease, Alzheimer's and Dementia (2020). DOI: 10.1002/alz.12240。
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