Evidence map›Paper›PMID 29705908›Full record

ReviewActa neuropathologica2018

Somatic mutations in neurons during aging and neurodegeneration.

Bert M Verheijen, Marc Vermulst, Fred W van Leeuwen

Erratum issuedOpen access · hybridAbstract readReview
In one paragraph

Review in Acta neuropathologica, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 32 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 1 pooled it
2.6field-weighted citation impact, top 9% 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

32 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.

  1. Pooled it
  2. Origins and timing of somatic variants in the brain.Current opinion in genetics & development · 2026
    Review
  3. Article
  4. Article
  5. Review
  6. Review
  7. Article
  8. Article
  9. Article
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  11. Review
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  17. Precision Medicine on the Fly: Using Drosophila to Decipher Gene-Environment Interactions in Parkinson's Disease.Toxicological sciences : an official journal of the Society of Toxicology · 2021
    Article
  18. Review
  19. MicroRNAs Regulating Autophagy in Neurodegeneration.Advances in experimental medicine and biology · 2021
    Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

3 authors at 3 institutions in 2 countries.

Bert M VerheijenDepartment of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, 3584 CG, Utrecht, The Netherlands. l.m.verheijen-3@umcutrecht.nl.
Marc VermulstDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Fred W van LeeuwenDepartment of Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, 6229 ER, Maastricht, The Netherlands.
Children's Hospital of Philadelphia · USMaastricht University · NLUniversity Medical Center Utrecht · NL

Funding

Understanding the role of transcription errors in aging and diseaseR01AG054641 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI VERMULST, MARC · 2017 to 2021
$1.7M
NIA NIH HHS R01 AG054641
6 · The paper itself

Abstract

The nervous system is composed of a large variety of neurons with a diverse array of morphological and functional properties. This heterogeneity is essential for the construction and maintenance of a distinct set of neural networks with unique characteristics. Accumulating evidence now indicates that neurons do not only differ at a functional level, but also at the genomic level. These genomic discrepancies seem to be the result of somatic mutations that emerge in nervous tissue during development and aging. Ultimately, these mutations bring about a genetically heterogeneous population of neurons, a phenomenon that is commonly referred to as "somatic brain mosaicism". Improved understanding of the development and consequences of somatic brain mosaicism is crucial to understand the impact of somatic mutations on neuronal function in human aging and disease. Here, we highlight a number of topics related to somatic brain mosaicism, including some early experimental evidence for somatic mutations in post-mitotic neurons of the hypothalamo-neurohypophyseal system. We propose that age-related somatic mutations are particularly interesting, because aging is a major risk factor for a variety of neuronal diseases, including Alzheimer's disease. We highlight potential links between somatic mutations and the development of these diseases and argue that recent advances in single-cell genomics and in vivo physiology have now finally made it possible to dissect the origins and consequences of neuronal mutations in unprecedented detail.

Indexed as

MutationAgingAnimalsHumansNerve DegenerationNeurodegenerative DiseasesAgingGenome integrityNeurodegenerationNeurological disordersNeuronal developmentSomatic brain mosaicismSomatic mutations

Identifiers

PMID29705908
PMCPMC5954077
OpenAlexW2800773024

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.