Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.
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ABSTRACT:
SUBMITTER: Park JS
PROVIDER: S-EPMC6626023 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.
Park Jun Sung JS Lee Junehawk J Jung Eun Sun ES Kim Myeong-Heui MH Kim Il Bin IB Son Hyeonju H Kim Sangwoo S Kim Sanghyeon S Park Young Mok YM Mook-Jung Inhee I Yu Seok Jong SJ Lee Jeong Ho JH
Nature communications 20190712 1
The role of brain somatic mutations in Alzheimer's disease (AD) is not well understood. Here, we perform deep whole-exome sequencing (average read depth 584×) in 111 postmortem hippocampal formation and matched blood samples from 52 patients with AD and 11 individuals not affected by AD. The number of somatic single nucleotide variations (SNVs) in AD brain specimens increases significantly with aging, and the rate of mutation accumulation in the brain is 4.8-fold slower than that in AD blood. Th ...[more]
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