Genomic Mosaicism Increases APP Genes in Alzheimer’s disease

Genomic Mosaicism Increases APP Genes in Alzheimer’s disease
shutterstock_144855175A new study entitled “Genomic mosaicism with increased amyloid precursor protein (APP) gene copy number in single neurons from sporadic Alzheimer's disease brains” identified genomic changes in single neurons as an underlying mechanism in sporadic Alzheimer's disease. The study was published in the journal eLife. Alzheimer's disease (AD) is a common form of dementia and it occurs within familial lineages due to mutations in the APP gene (short for amyloid precursor protein). This gene encodes β-amyloid (Aβ) protein that accumulates to form β-amyloid plaques -- one of the hallmarks of AD -- leading to a stronger presentation of the APP gene, which increases AD pathogenesis. However, familial AD accounts only for less than 5% of all AD cases. Notably, the link between APP and familial AD is not observed in sporadic AD cases, which were shown to lack APP amplification. A research team at the
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