Diseases of the nERVous system: retrotransposon activity in neurodegenerative disease

Mob DNA. 2019 Jul 26;10:32. doi: 10.1186/s13100-019-0176-1. eCollection 2019.


Transposable Elements (TEs) are mobile genetic elements whose sequences constitute nearly half of the human genome. Each TE copy can be present in hundreds to thousands of locations within the genome, complicating the genetic and genomic studies of these highly repetitive sequences. The recent development of better tools for evaluating TE derived sequences in genomic studies has enabled an increasing appreciation for the contribution of TEs to human development and disease. While some TEs have contributed novel and beneficial host functions, this review will summarize the evidence for detrimental TE activity in neurodegenerative disorders. Much of the evidence for pathogenicity implicates endogenous retroviruses (ERVs), a subset of TEs that entered the genome by retroviral infections of germline cells in our evolutionary ancestors and have since been passed down as a substantial fraction of the human genome. Human specific ERVs (HERVs) represent some of the youngest ERVs in the genome, and thus are presumed to retain greater function and resultant pathogenic potential.

Keywords: Aicardi-Goutieres syndrome; Alzheimer’s disease; Amyotrophic lateral sclerosis; Endogenous retroviruses; Multiple sclerosis; Neurodegenerative disease; Transposable elements.

Publication types

  • Review