ISSN:
1432-1459
Keywords:
Key words Amyotrophic lateral sclerosis
;
Genetics
;
Presenilin-1 intron 8 polymorphism
;
Apoptosis
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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 and controls. These results suggest a possible intervention of presenilin-1 in the pathogenesis of amyotrophic lateral sclerosis.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004150070050
