Paraoxonase gene mutations in amyotrophic lateral sclerosis

Ann Neurol. 2010 Jul;68(1):102-7. doi: 10.1002/ana.21993.


Three clustered, homologous paraoxonase genes (PON1, PON2, and PON3) have roles in preventing lipid oxidation and detoxifying organophosphates. Recent reports describe a genetic association between the PON genes and sporadic amyotrophic lateral sclerosis (ALS). We now report that in genomic DNA from individuals with familial and sporadic ALS, we have identified at least 7 PON gene mutations that are predicted to alter PON function.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Amyotrophic Lateral Sclerosis / genetics*
  • Aryldialkylphosphatase / genetics*
  • DNA Mutational Analysis
  • Esterases / genetics*
  • Family
  • Humans
  • Mutation*
  • Sequence Homology, Amino Acid


  • Esterases
  • Aryldialkylphosphatase
  • PON1 protein, human
  • PON2 protein, human
  • PON3 protein, human