title: Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis.
abstract: The mechanisms underlying motor neuron degeneration in amyotrophic lateral sclerosis are not fully understood. Recent studies suggest that apoptosis is involved in the abnormal neural death that occurs in this devastating disease. Presenilin-1, a transmembrane protein, seems to be implicated in apoptosis. To determine whether presenilin-1 intron 8 polymorphism has an influence in the course of amyotrophic lateral sclerosis, we examined this polymorphism genotypes in a large group of patients (n = 72) with amyotrophic lateral sclerosis and in a random sample of 213 healthy individuals. The results showed a significant difference in genotype (P < 0.04) and allele (P < 0.03) distribution between patients controls. These results suggest a possible intervention of presenilin-1 in the pathogenesis of amyotrophic lateral sclerosis.
authors.affiliation: Department of Neurology of Athens National University, Eginition Hospital, 74 Vass Sofias Ave., 11528 Athens, Greece.
authors.forename: M
authors.initials: M
authors.lastname: Panas
authors.forename: G
authors.initials: G
authors.lastname: Karadima
authors.forename: N
authors.initials: N
authors.lastname: Kalfakis
authors.forename: O
authors.initials: O
authors.lastname: Psarrou
authors.forename: P
authors.initials: P
authors.lastname: Floroskoufi
authors.forename: A
authors.initials: A
authors.lastname: Kladi
authors.forename: M B
authors.initials: MB
authors.lastname: Petersen
authors.forename: D
authors.initials: D
authors.lastname: Vassilopoulos
mesh_terms: D000328:Adult; D017668:Age of Onset; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D017209:Apoptosis / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D053764:Presenilin-1
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1