Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis |
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| Authors: | Marios Panas Georgia Karadima Nikolaos Kalfakis Ourania Psarrou Paraskevi Floroskoufi Athina Kladi Michael B Petersen Demetris Vassilopoulos |
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| Affiliation: | (1) Department of Neurology of Athens, National University, Eginition Hospital, 74 Vass Sofias Ave., 11528 Athens, Greece, Tel.: +30-1-7 28 91 18, Fax: +30-1-7 28 92 89, GR;(2) Institute of Child Health. Aghia Sophia Childrens Hospital, Athens, Greece, GR |
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| 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.
Received: 14 February 2000 / Received in revised form: 20 April 2000 / Accepted: 4 June 2000 |
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| Keywords: | Amyotrophic lateral sclerosis Genetics Presenilin-1 intron 8 polymorphism Apoptosis |
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