Val-9Ala and Ile+58Thr polymorphism of MnSOD in Parkinson's disease

Clin Biochem. 2010 Aug;43(12):979-82. doi: 10.1016/j.clinbiochem.2010.05.009. Epub 2010 May 24.

Abstract

Objectives: To investigate the polymorphism distribution of Val-9Ala and Ile+58Thr of the Mn-superoxide dismutase (Mn-SOD) gene among subjects with Parkinson's disease (PD) by analyses of genders and clinical severity.

Design and methods: We examined the DNA genotypes of Val-9Ala and Ile+58Thr from 295 PD subjects and 111 controls by nucleotide sequencing and BsaWI restriction.

Results: Ala/Ala homozygosity was found in four PD subjects but not in the controls. All of the genotypes at codon +58 among the examined samples were Ile/Ile homozygotes. Although higher carrier rate of Ala allele among PD subjects than the controls, there were no differences by analyses of the genders and clinical severity.

Conclusion: The higher Ala-allele carrier rate among PD subjects may suggest a possible higher amount of mitochondrial Mn-SOD rendering higher intracellular stress in PD. In this study the polymorphisms at codons -9 and+58 did not give informative association evidences with PD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Female
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Parkinson Disease / enzymology*
  • Parkinson Disease / genetics*
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Restriction Fragment Length / genetics
  • Superoxide Dismutase / genetics*

Substances

  • Superoxide Dismutase