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A valine to methionine polymorphism at codon 83 in the 8-oxo-dGTPase gene MTH1 is not associated with sporadic Parkinson's disease.

Abstract
Recently, 8-oxo-7,8-dihydrodeoxyguanosine triphosphatase (8-oxo-dGTPase; MTH1), a key enzyme for preventing oxidative stress-induced DNA damage, has been found to be expressed aberrantly in the nigrostriatal dopaminergic neurones in the brains of those with Parkinson's disease (PD). A valine (Val) to methionine (Met) polymorphism at codon 83 in exon 4 of the MTH1 gene was studied in 73 patients with sporadic PD and 151 age-matched non-PD controls by PCR-RFLP analysis, to determine a possible association of this polymorphism with development of PD. The frequency of either 83Val or 83Met allele was not statistically different between PD patients (92.5% or 7.5%) and the controls (88.7% or 11.3%) (chi(2) = 1.511, P = 0.2190). The 83Met/Met homozygotes consisting of an infrequent genotype in the control population (1.3%) were not found in the PD group. The frequency of both 83Val/Met heterozygotes and 83Met/Met homozygotes combined was not statistically different between PD patients (15.1%) and the controls (21.2%), compared with that of the 83Val/Val homozygotes (chi(2) = 1.190, P = 0.2754). These results indicate that the 83Val/Met polymorphism in the MTH1 gene is not associated with an increased risk for development of sporadic PD.
AuthorsJ Satoh, Y Kuroda
JournalEuropean journal of neurology (Eur J Neurol) Vol. 7 Issue 6 Pg. 673-7 (Nov 2000) ISSN: 1351-5101 [Print] England
PMID11136354 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Methionine
  • Phosphoric Monoester Hydrolases
  • 8-oxodGTPase
  • DNA Repair Enzymes
  • Valine
Topics
  • Aged
  • Aged, 80 and over
  • Amino Acid Substitution
  • DNA Repair Enzymes
  • Exons
  • Female
  • Humans
  • Male
  • Methionine
  • Middle Aged
  • Parkinson Disease (genetics)
  • Phosphoric Monoester Hydrolases (chemistry, genetics)
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length
  • Reference Values
  • Valine

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