title: 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.
authors.affiliation: Division of Neurology, Department of Internal Medicine, Saga Medical School, Nabeshima, Saga, Japan. satojl@post.saga-med.ac.jp
authors.forename: J
authors.initials: J
authors.lastname: Satoh
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroda
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D045643:DNA Repair Enzymes; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008715:Methionine; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000737:chemistry / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012016:Reference Values; D014633:Valine
chemical_list: D008715:Methionine; D010744:Phosphoric Monoester Hydrolases; C078207:8-oxodGTPase; D045643:DNA Repair Enzymes; D014633:Valine