Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis

The mechanisms underlying motor neuron degeneration in amyotrophic lateral sclerosis are not fully understood. Recent studies suggest that apoptosis i s involved in the abnormal neural death that occurs in this devastating dis ease. Presenilin-1, a transmembrane protein, seems to be implicated in apop tosis. To determine whether presenilin-1 intron 8 polymorphism has an influ ence in the course of amyotrophic lateral sclerosis, we examined this polym orphism genotypes in a large group of patients (n=72) with amyotrophic late ral sclerosis and in a random sample of 213 healthy individuals. The result s showed a significant difference in genotype (P < 0.04) and allele (P < 0. 03) distribution between patients controls. These results suggest a possibl e intervention of presenilin-1 in the pathogenesis of amyotrophic lateral s clerosis.