title: Identification of a novel D109Y mutation in Cu/Zn superoxide dismutase (sod1) gene associated with amyotrophic lateral sclerosis.
abstract: We report a novel missense mutation (Asp109Tyr) in exon 4 of the Cu/Zn superoxide dismutase (sod1) gene in a woman with apparently sporadic amyotrophic lateral sclerosis (SALS). Signs of motor deficit appeared at the age of 51 years which progressed over the next 6 years to upper and lower motor neuron disease and death occurred by the age of 57 years. In this mutation, the base change of guanine to thymine at codon 109 of sod1 gene leads to the replacement of aspartic by tyrosine in the protein. This amino acid change in the protein however, did not alter the catalytic activity of the SOD1 enzyme as there was no change in the enzymatic activity of purified SOD1 from the patient's erythrocytes compared to control.
authors.affiliation: H. Houston Merritt Center, Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA. abn2@columbia.edu
authors.forename: Ali
authors.initials: A
authors.lastname: Naini
authors.forename: Mahsa
authors.initials: M
authors.lastname: Mehrazin
authors.forename: Jiesheng
authors.initials: J
authors.lastname: Lu
authors.forename: Paul
authors.initials: P
authors.lastname: Gordon
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mitsumoto
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology* / Q000235:genetics*; D001224:Aspartic Acid / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D020134:Catalytic Domain / Q000235:genetics; D002490:Central Nervous System / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D013482:Superoxide Dismutase / Q000235:genetics*; D014443:Tyrosine / Q000235:genetics
chemical_list: D003062:Codon; D005819:Genetic Markers; D001224:Aspartic Acid; D014443:Tyrosine; D013482:Superoxide Dismutase