Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation
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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. The putatively pathogenic brain somatic mutations identified in 26.9% (14 of 52) of AD individuals are enriched in PI3K-AKT, MAPK, and AMPK pathway genes known to contribute to hyperphosphorylation of tau. We show that a pathogenic brain somatic mutation in PIN1 leads to a loss-of-function mutation. In vitro mimicking of haploinsufficiency of PIN1 aberrantly increases tau phosphorylation and aggregation. This study provides new insights into the genetic architecture underlying the pathogenesis of AD.
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Some somatic mutations may underly neurodevelopmental and neurodegenerative disease.
“work has shown that some may underly neurodevelopmental and neurodegenerative disease.”
From Mechanisms of DNA damage-mediated neurotoxicity in neurodegenerative disease (2022) · cites this paper as Park et al, 2019
Somatic single nucleotide variations (SNVs) increase with age and are enriched in genes that regulate tau phosphorylation in hippocampal tissue from individuals with Alzheimer's disease.
“a study performing whole exome sequencing of hippocampal tissue from individuals with Alzheimer’s disease (AD) revealed that somatic single nucleotide variations (SNVs) increase with age and are enriched in genes that regulate tau phosphorylation”
From Mechanisms of DNA damage-mediated neurotoxicity in neurodegenerative disease (2022) · cites this paper as Park et al, 2019
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- Authors
- Park, J. S., Lee, J., Jung, E. S., Kim, M.-H., Kim, I. B., Son, H., Kim, S., Kim, S., Park, Y. M., Mook-Jung, I., Yu, S. J., & Lee, J. H.
- Affiliations
- Korea Advanced Institute of Science and Technology (KR)
- Seoul National University (KR)
- Yonsei University (KR)
- Institute for Basic Science (KR)
- Korea Institute of Science & Technology Information (KR)
- Corresponding author
- Lee, Junehawk
- Yu, Seok Jong
- Lee, Jeong Ho
- ORCID
- Venue
- Nature Communications
- Published
- 2019-07-12
- Volume
- 10
- Issue
- 1
- Pages
- 3090-3090
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC6626023
- OpenAlex
- W2960481741
- Cited by
- 155
- References
- 80
- Citations by year
- 2026: 11 · 2025: 16 · 2024: 25 · 2023: 16 · 2022: 35 · 2021: 18 · 2020: 28 · 2019: 6
- FWCI
- 14.92
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- U.S. Department of Veterans Affairs
- National Multiple Sclerosis Society
- Stanley Medical Research Institute
- Multiple Sclerosis Society
- Korea Institute of Science and Technology
- Korea Institute of Science and Technology Information (K-19-L02-C07, K-19-L02-C07-S01)
- University of California, San Diego
- National Institute of Mental Health
- National Cancer Institute (F32CA090073)
- National Institute of Neurological Disorders and Stroke
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- Alzheimer's disease, somatic mutations, tau phosphorylation, tau hyperphosphorylation, aging, Pin1, haploinsufficiency, loss-of-function mutations, PI3K/Akt signaling, MAPK signaling, AMPK signaling, hippocampus, tau aggregation, postmortem brain
- MeSH terms
- NIMA-Interacting Peptidylprolyl Isomerase, Exome Sequencing, Loss of Function Mutation, Age Factors, Aged, Aged, 80 and over, Aging, Alzheimer Disease, Animals, Female, Hippocampus, Humans, Male, Middle Aged, Neurons, Phosphorylation, Recombinant Proteins, tau Proteins, Polymorphism, Single Nucleotide, Cell Line, Tumor, Mice, Gene Knockdown Techniques, Haploinsufficiency, Mutation Rate, Protein Aggregation, Pathological
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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