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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
Author(s) -
Satoh J.,
Kuroda Y.
Publication year - 2000
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1046/j.1468-1331.2000.00162.x
Subject(s) - valine , genotype , medicine , methionine , endocrinology , allele , oxidative stress , dopaminergic , heterozygote advantage , exon , polymorphism (computer science) , gene , genetics , biology , amino acid , dopamine
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%) (χ 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 (χ 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.