Mechanisms of Disease: DNA Repair Defects and Neurological Disease

Kalluri Subba Rao


Nat Clin Pract Neurol. 2007;3(3):162-172. 

In This Article

Sidebar: Key Points

  • The native structure of genomic DNA can be damaged in many ways, both by external agents and from within the cell as a consequence of normal metabolism

  • In an effort to maintain their genomic integrity, organisms have evolved a number of pathways to repair DNA damage

  • Mutations in genes coding for proteins involved in DNA repair pathways can lead to abnormal phenotypes, including neurological disorders, cancer and premature aging; many such conditions are found to have an etiological link to defects in one or more DNA repair pathways

  • In a postmitotic organ such as the brain, the base excision repair pathway—a conserved mode of DNA repair that deals with the oxidative damage that can result from internal forces—has an important role, and could be a viable candidate for therapeutic targeting

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