Transposable Elements: A Common Feature of Neurodevelopmental and Neurodegenerative Disorders

Trends Genet. 2020 Aug;36(8):610-623. doi: 10.1016/j.tig.2020.05.004. Epub 2020 Jun 1.

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.

Publication types

  • Review

MeSH terms

  • DNA Transposable Elements*
  • Evolution, Molecular*
  • Genome, Human*
  • Humans
  • Neurodegenerative Diseases / genetics*
  • Neurodegenerative Diseases / pathology
  • Neurodevelopmental Disorders / genetics*
  • Neurodevelopmental Disorders / pathology

Substances

  • DNA Transposable Elements