Transposable Elements: A Common Feature of Neurodevelopmental and Neurodegenerative Disorders. Issue 8 (August 2020)

• Record Type: Journal Article
• Authors: Jönsson, Marie E.; Garza, Raquel; Johansson, Pia A.; Jakobsson, Johan
• Is Part Of: Trends in genetics. Volume 36:Issue 8(2020)
• Page Start: 610
• Page End: 623
• Publication Date: 2020-08
• Subjects: Genetics -- Periodicals; 576.5
• DOI: 10.1016/j.tig.2020.05.004
• Languages: English
• ISSNs: 0168-9525

Abstract

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. Highlights: Transposable elements (TEs) make up almost half of our genome but are mostly silenced via different epigenetic mechanisms such as histone modifications and DNA methylation. The loss of effective silencing of TEs can lead to their activation, which in turn can lead to mutagenic and gene regulatory consequences, as well as induction of the interferon defense pathway. The field of TE research has so far been hampered by technological limitations with recent advances in sequencing techniques greatly increasing our understanding of TE activation in various disease mechanisms. Aberrant TE activation has been reported in both neurodevelopmental and neurodegenerative disorders, making it an interesting common denominator, which opens up possibilities for alternative diagnostic and treatment strategies.