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Transposable Elements, Inflammation, and Neurological Disease.

Aurian Saleh1, Angela Macia1, Alysson R Muotri1

  • 1Department of Pediatrics, Rady Children's Hospital San Diego, University of California, San Diego, San Diego, CA, United States.

Frontiers in Neurology
|September 5, 2019
PubMed
Summary
This summary is machine-generated.

Transposable elements (TEs) are mobile DNA sequences. Research suggests these elements, particularly retrotransposons, play a significant role in human disease, including inflammatory, autoimmune, and neurological disorders.

Keywords:
CNSHERVLINE-1inflammationretrotranspositionreverse transcriptase inhibitors

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Area of Science:

  • Genetics
  • Molecular Biology
  • Genomics

Background:

  • Transposable Elements (TEs) are mobile genetic sequences capable of replicating and inserting into new genomic locations.
  • Retrotransposons, a type of TE, have evaded cellular repression mechanisms and are implicated in somatic mosaicism.
  • Emerging evidence highlights retrotransposons as significant regulatory elements in the human genome.

Purpose of the Study:

  • To explore the biological significance and impact of transposable elements, specifically retrotransposons, in human health and disease.
  • To investigate the role of endogenous retroelements in the pathogenesis of inflammatory, autoimmune, and neurological disorders.
  • To propose that active mobile genetic elements contribute more significantly to human disease than currently recognized.

Main Methods:

  • Literature review and synthesis of existing research on transposable elements and their role in disease.
  • Analysis of genomic data to identify active retrotransposon activity in various disease states.
  • Comparative genomics to understand evolutionary pressures on TE regulation.

Main Results:

  • Retrotransposons are increasingly recognized as potent regulators of gene expression within the human genome.
  • There is substantial evidence linking endogenous retroelements to the etiopathogenesis of inflammatory diseases.
  • Retrotransposons show a particular association with autoimmune and neurological disorders.

Conclusions:

  • Active transposable elements, especially retrotransposons, are likely significant contributors to human disease pathogenesis.
  • Further research is warranted to fully elucidate the mechanisms by which TEs influence disease.
  • Understanding TE activity may offer novel therapeutic targets for inflammatory and neurological conditions.