Evidence map›Paper›PMID 33979534›Full record

ReviewAnnual review of genomics and human genetics2021

Brain Somatic Mutation in Aging and Alzheimer's Disease.

Michael B Miller, Hannah C Reed, Christopher A Walsh

Open access · hybridAbstract readReview
In one paragraph

Review in Annual review of genomics and human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 1 pooled it
3.9field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

37 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Scalable and comprehensive mosaic variant calling using DRAGEN.medRxiv : the preprint server for health sciences · 2026
    Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Sc-TUSV-Ext: Single-Cell Clonal Lineage Inference from Single Nucleotide Variants, Copy Number Alterations, and Structural Variants.Journal of computational biology : a journal of computational molecular cell biology · 2025
    Article
  11. Article
  12. Somatic Mosaicism in Brain Disorders.Annual review of pathology · 2025
    Review
  13. Review
  14. Article
  15. Article
  16. Article
  17. A microglia clonal inflammatory disorder in Alzheimer's Disease.bioRxiv : the preprint server for biology · 2024
    Article
  18. Article
  19. Mitochondrial One-Carbon Metabolism and Alzheimer's Disease.International journal of molecular sciences · 2024
    Review
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 3 institutions in 1 country.

Michael B MillerDivision of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts 02115, USA; email: christopher.walsh@childrens.harvard.edu.
Hannah C ReedDivision of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts 02115, USA; email: christopher.walsh@childrens.harvard.edu.
Christopher A WalshDivision of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts 02115, USA; email: christopher.walsh@childrens.harvard.edu.
Boston Children's Hospital · USBroad Institute · USHarvard University · US

Funding

VASCULAR, PULMONARY AND RENAL INJURYT32HL007627 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI GIMBRONE, MICHAEL A, MITCHELL, RICHARD N · 1985 to 2019
$12.7M
Cell Identity Determination In Human Brain: Somatic Mutation and Cell LineageR01NS032457 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Alice Eunjung Lee, Christopher A. Walsh · 1995 to 2026
$12.7M
Genome-Wide Somatic Mutation in Alzheimer's Disease Pathogenesis Using Single Neuron AnalysisK08AG065502 · NIA · BRIGHAM AND WOMEN'S HOSPITAL · PI MILLER, MICHAEL B · 2020 to 2024
$848k
Howard Hughes Medical InstituteNHLBI NIH HHS T32 HL007627NIA NIH HHS K08 AG065502NINDS NIH HHS R01 NS032457
6 · The paper itself

Abstract

Somatic mutations arise postzygotically, producing genetic differences between cells in an organism. Well established as a driver of cancer, somatic mutations also exist in nonneoplastic cells, including in the brain. Technological advances in nucleic acid sequencing have enabled recent breakthroughs that illuminate the roles of somatic mutations in aging and degenerative diseases of the brain. Somatic mutations accumulate during aging in human neurons, a process termed genosenium. A number of recent studies have examined somatic mutations in Alzheimer's disease (AD), primarily from the perspective of genes causing familial AD. We have also gained new information on genome-wide mutations, providing insights into the cellular events driving somatic mutation and cellular dysfunction. This review highlights recent concepts, methods, and findings in the progress to understand the role of brain somatic mutation in aging and AD.

Indexed as

Alzheimer DiseaseAgingBrainHumansMutationNeuronsagingAlzheimer's diseasegenomicsmosaicismneurodegenerative diseasessomatic mutation

Identifiers

PMID33979534
PMCPMC8612367
OpenAlexW3162772474

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.