Synthetic lethality

Synthetic lethality is defined as a type of genetic interaction where the combination of two genetic events results in cell death or death of an organism.[1] Although the foregoing explanation is wider than this, it is common when referring to synthetic lethality to mean the situation arising by virtue of a combination of deficiencies of two or more genes leading to cell death (whether by means of apoptosis or otherwise), whereas a deficiency of only one of these genes does not. In a synthetic lethal genetic screen, it is necessary to begin with a mutation that does not result in cell death, although the effect of that mutation could result in a differing phenotype (slow growth for example), and then systematically test other mutations at additional loci to determine which, in combination with the first mutation, causes cell death arising by way of deficiency or abolition of expression.

Synthetic lethality has utility for purposes of molecular targeted cancer therapy. The first example of a molecular targeted therapeutic agent, which exploited a synthetic lethal approach, arose by means of an inactivated tumor suppressor gene (BRCA1 and 2), a treatment which received FDA approval in 2016 (PARP inhibitor).[2] A sub-case of synthetic lethality, where vulnerabilities are exposed by the deletion of passenger genes rather than tumor suppressor is the so-called "collateral lethality".[3]

  1. ^ Nijman SM (January 2011). "Synthetic lethality: general principles, utility and detection using genetic screens in human cells". FEBS Letters. 585 (1): 1–6. doi:10.1016/j.febslet.2010.11.024. PMC 3018572. PMID 21094158.
  2. ^ Lord CJ, Ashworth A (March 2017). "PARP inhibitors: Synthetic lethality in the clinic". Science. 355 (6330): 1152–1158. Bibcode:2017Sci...355.1152L. doi:10.1126/science.aam7344. PMC 6175050. PMID 28302823.
  3. ^ Muller FL, Colla S, Aquilanti E, Manzo VE, Genovese G, Lee J, et al. (August 2012). "Passenger deletions generate therapeutic vulnerabilities in cancer". Nature. 488 (7411): 337–42. Bibcode:2012Natur.488..337M. doi:10.1038/nature11331. PMC 3712624. PMID 22895339.