Identification of a novel mutation in Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis

J Neurol Sci. 2002 Jun 15;198(1-2):17-9. doi: 10.1016/s0022-510x(02)00052-7.

Abstract

We report a new missense mutation (Ala140Gly) in exon 5 of the Cu/Zn superoxide dismutase (SOD-1) gene in a 73-year-old man with familial amyotrophic lateral sclerosis (FALS). The enzymatic activity of mutated SOD-1 measured in erythrocyte lysate was 70% of control. This heterozygote mutation, which is associated with the late onset of the disease, is located in the active site of the enzyme.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Amino Acid Sequence / genetics
  • Amyotrophic Lateral Sclerosis / genetics*
  • Base Sequence / genetics
  • Cytosol / enzymology
  • DNA / genetics
  • Erythrocytes / metabolism
  • Humans
  • Male
  • Mutation, Missense* / genetics
  • Reference Values
  • Superoxide Dismutase / blood
  • Superoxide Dismutase / genetics*

Substances

  • DNA
  • Superoxide Dismutase