Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis

We analyzed genomic DNA from ALS patients for mutations in the apurinic/apy rimidinic endonuclease (APEX nuclease) gene. We identified three rare polym orphisms in the untranslated region of the gene and one common two-allele p olymorphism (D148E). The allelic frequency D148E was significantly differen t in sporadic ALS patients compared with controls. A conserved amino acid c hange and a 4-base pair deletion were also identified in sporadic ALS patie nts. These data suggest that APEX nuclease may contribute to the etiology o f ALS.