Transposable Elements: A Common Feature of Neurodevelopmental and Neurodegenerative Disorders

Jönsson, Marie E.; Garza, Raquel; Johansson, Pia A.; Jakobsson, Johan

doi:10.1016/j.tig.2020.05.004

Cited by 122Chromosomal and Genetic VariationsGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Transposable Elements: A Common Feature of Neurodevelopmental and Neurodegenerative Disorders

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Jönsson, Marie E., Garza, Raquel, Johansson, Pia A., Jakobsson, Johan·2020·Trends in Genetics

DOI 10.1016/j.tig.2020.05.004

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Abstract

The etiology of most neurological disorders is poorly understood and current treatments are largely ineffective. New ideas and concepts are therefore vitally important for future research in this area. This review explores the concept that dysregulation of transposable elements (TEs) contributes to the appearance and pathology of neurodevelopmental and neurodegenerative disorders. Despite TEs making up at least half of the human genome, they are vastly understudied in relation to brain disorders. However, recent advances in sequencing technologies and gene editing approaches are now starting to unravel the pathological role of TEs. Aberrant activation of TEs has been found in many neurological disorders; the resulting pathogenic effects, which include alterations of gene expression, neuroinflammation, and direct neurotoxicity, are starting to be resolved. An increased understanding of the relationship between TEs and pathological processes in the brain improves the potential for novel diagnostics and interventions for brain disorders.

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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 [126]

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Authors: Jönsson, M. E., Garza, R., Johansson, P. A., & Jakobsson, J.
Affiliations: Lund University (SE)
Corresponding author: Jakobsson, Johan
ORCID: Jönsson, Marie E.
Garza, Raquel
Johansson, Pia A.
Jakobsson, Johan
Venue: Trends in Genetics
Publisher: Elsevier BV
Published: 2020-08
Volume: 36
Issue: 8
Pages: 610-623
ISSN: 0168-9525 (ISSN-L)
DOI: 10.1016/j.tig.2020.05.004
OpenAlex: W3031048909
Cited by: 122
References: 23
Citations by year: 2026: 13 · 2025: 26 · 2024: 21 · 2023: 15 · 2022: 17 · 2021: 23 · 2020: 6 · 2019: 1
FWCI: 1.29
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Trends in Genetics (publishedVersion)
PubMed (publishedVersion)
Lund University Publications (Lund University) (submittedVersion)
Funders: Hjärnfonden
Vetenskapsrådet
Topics: Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Keywords: transposable elements, neurodevelopmental disorders, neurodegenerative diseases, neuroinflammation, neurotoxicity, gene expression changes, brain disorders, genome editing
MeSH terms: DNA Transposable Elements, Humans, Genome, Human, Evolution, Molecular, Neurodegenerative Diseases, Neurodevelopmental Disorders

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Transposable Elements: A Common Feature of Neurodevelopmental and Neurodegenerative Disorders

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