The molecular analysis of superoxide dismutase enzyme in amyotrophic lateral sclerosis patients

Amyotrophic lateral sclerosis is one of the most common neuromuscular diseases in adulthood. It is thought that different genes play an important role in the development of this disease. Cu, Zn SOD1 gene is one of the most mutated genes among those genes. SOD1 gene encodes the superoxide dismutase enzyme, which catalyzes the inactivation of superoxide into oxygen and hydrogen peroxide and playing role in antioxidant defence. Therefore, in this study, we investigated the presence and incidence of the first exon and intron of SOD 1 gene (rs1781180) mutation with SANGER DNA sequence analysis in 36 patients who consulted to the Neurology Department, Balcalı Hospital of Cukurova University. No mutation was detected in the first exon of the SOD1 gene while six intronic variants were found in patients. We detected that intronic variants in two patients had homozygous and in four patients had heterozygote. Accordingly our results; we suggested that the absence of mutations in patients may be due to the restricted number of cases or the low rate of mutation in the SOD1 gene in sporadic ALS cases. Also, observed intronic variants were not very informative for ALS. Therefore, further research with larger patient population and more gene groups are needed to understand the molecular mechanism of ALS Key Words: Amyotrophic lateral sclerosis, Superoxide dismutase, Mutation