Integrative Analysis Unveiled Convergent Downstream Effects of eQTLs Susceptible to Alzheimer ’ s Disease
semanticscholar(2019)
摘要
Alzheimer’s Disease (AD) is a chronic neurodegenerative disease affecting tens of millions of people worldwide and is the leading cause of dementia. A significant amount of risk is attributed to genetics, but it is believed that lifestyle and environmental factors also play a role over time. In the pathogenesis of AD, brain proteins fail to function normally; neurons become damaged, lose their connections and die eventually. Toxic proteins exist primarily in two formations: plaques and tangles. Plaques occur due to the buildup of beta-amyloid, which disrupts cell-to-cell communication between neurons, while tangles occur after disrupted tau proteins self-organize into fibrils that become toxic to neurons. Despite a significant amount of research, the interplay between the environment, biological mechanisms and the genetics of AD are yet to be understood.
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