Genome integrity and disease prevention in the nervous system

Genes Dev. 2017 Jun 15;31(12):1180-1194. doi: 10.1101/gad.301325.117.

Abstract

Multiple DNA repair pathways maintain genome stability and ensure that DNA remains essentially unchanged over the life of a cell. Various human diseases occur if DNA repair is compromised, and most of these impact the nervous system, in some cases exclusively. However, it is often unclear what specific endogenous damage underpins disease pathology. Generally, the types of causative DNA damage are associated with replication, transcription, or oxidative metabolism; other direct sources of endogenous lesions may arise from aberrant topoisomerase activity or ribonucleotide incorporation into DNA. This review focuses on the etiology of DNA damage in the nervous system and the genome stability pathways that prevent human neurologic disease.

Keywords: DNA damage; genome stability; nervous system; neurodevelopment; neurologic disease.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • DNA Damage*
  • DNA Repair
  • Genomic Instability*
  • Humans
  • Nervous System / physiopathology*
  • Nervous System Diseases / etiology
  • Nervous System Diseases / genetics*
  • Nervous System Diseases / physiopathology
  • Nervous System Diseases / prevention & control