title: Extracellular superoxide dismutase (EC-SOD) gene mutations screening in a sample of Mediterranean population.
abstract: The main role of superoxide dismutases (SODs) is to eliminate reactive oxygen species in cells and tissues. Extracellular SOD (EC-SOD/SOD3) is a major superoxide scavenger and it is located on cell surfaces and primarily in extracellular matrix, and binds heparan sulfates by its carboxyterminal portion. Human EC-SOD gene is located on chromosome 4 and comprises three exons and two introns. The SOD3 coding sequence is entirely located within exon 3 and has missense polymorphisms. The Arg213Gly mutation affects the function of the carboxyterminus and correlates with several diseases. In this work, we explored genetic variants within EC-SOD gene of subjects living in southern Italy. Four new variations were detected: one was silent mutation, while three were missense variations that give rise to amino acid substitutions at position 131 (F>C), 160 (V>L) and 202 (R>L) in the mature product. The Arg213Gly variant was not found. The missense mutations in the DNA of assayed 2400 chromosomes had frequencies of 5.34% for the F131C variation, 0.25% for the V160L variation and 0.84% for the R202L variation. The effect of these alterations on the metabolic activity and diseases remains to be further explained.
authors.affiliation: Department of Biochemical, Physiological and Nutritional Sciences, School of Medicine, University of Messina, Policlinico Universitario, Torre Biologica, 5 piano, Via C. Valeria, 98125 Messina, Italy. scampo@unime.it
authors.forename: Salvatore
authors.initials: S
authors.lastname: Campo
authors.forename: Adriana M
authors.initials: AM
authors.lastname: Sardo
authors.forename: Giuseppe M
authors.initials: GM
authors.lastname: Campo
authors.forename: Angela
authors.initials: A
authors.lastname: D'Ascola
authors.forename: Angela
authors.initials: A
authors.lastname: Avenoso
authors.forename: Maria
authors.initials: M
authors.lastname: Castaldo
authors.forename: Carlo
authors.initials: C
authors.lastname: Saitta
authors.forename: Amalia
authors.initials: A
authors.lastname: Lania
authors.forename: Antonino
authors.initials: A
authors.lastname: Saitta
authors.forename: Alberto
authors.initials: A
authors.lastname: Calatroni
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon; D005110:Extracellular Space / Q000201:enzymology; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D014644:Genetic Variation; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D013482:Superoxide Dismutase / Q000737:chemistry / Q000235:genetics*
chemical_list: D003062:Codon; D013482:Superoxide Dismutase