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Cited by 35Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Awakening the dark side: retrotransposon activation in neurodegenerative disorders

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Ochoa Thomas, Elizabeth, Zuniga, Gabbe, Sun, Wenyan, Frost, Bess·2020·Current Opinion in Neurobiology
DOI 10.1016/j.conb.2020.01.012PMC PMC7198348
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Abstract

Nearly half (45%) of the human genome is composed of transposable elements, or 'jumping genes'. Since Barbara McClintock's original discovery of transposable elements in 1950, we have come to appreciate that transposable element mobilization is a major driver of evolution that transposons are active in the germline and the soma, and that transposable element dysregulation is causally associated with many human disorders. In the present review, we highlight recent studies investigating transposable element activation in the adult brain and in the context of neurodegeneration. Collectively, these studies contribute to a greater understanding of the frequency of complete retrotransposition in the adult brain as well as the presence of transposable element-derived RNA and protein in brain and fluids of patients with neurodegenerative disorders. We discuss therapeutic opportunities and speculate on the larger implications of transposable element activation in regard to current hot topics in the field of neurodegeneration.

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  • Several groups have independently detected elevated TE transcripts in human AD, adding to an intriguing phenomenon of TE dysregulation in neurodegenerative diseases.

    “Several groups have independently detected elevated TE transcripts in human AD [122–124], adding to an intriguing phenomenon of TE dysregulation in neurodegenerative diseases [125–128].”

    From What would it take to prove that a chronic infection is a causal agent in Alzheimer’s disease? (2025) · cites this paper as [125]

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Cited by

Sorted by citations

Authors
Ochoa Thomas, E., Zuniga, G., Sun, W., & Frost, B.
Affiliations
The University of Texas at San Antonio Health Science Center (US)
Corresponding author
Frost, Bess
ORCID
Venue
Current Opinion in Neurobiology
Publisher
Elsevier BV
Published
2020-04
Volume
61
Pages
65-72
ISSN
0959-4388 (ISSN-L)
DOI
10.1016/j.conb.2020.01.012
PMC
PMC7198348
OpenAlex
W3006919788
Cited by
35
References
17
Citations by year
2026: 3 · 2025: 8 · 2024: 8 · 2023: 5 · 2022: 6 · 2021: 5
FWCI
0.34
Type
journal article
Language
en
Open access
Licence
Locations
  • Current Opinion in Neurobiology (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • BrightFocus Foundation
  • National Institutes of Health
  • National Institute on Aging
Topics
  • Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords
retrotransposons, transposable elements, retrotransposition, neurodegenerative diseases, adult brain
MeSH terms
Humans, Genome, Human, Retroelements, Neurodegenerative Diseases

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