Prevalence of CYPD6 mutations in sporadic Parkinson’s disease: case-control study

Abstract

Genetic factors seem to play an important role in the development of Parkinson’s disease. The degeneration of the sustantia nigra, characteristic of this disease, might be due to the toxic effect of substances derived from cellular metabolism. The CYP2D6 gene codifies for the metabolising enzyme debrisoquie-4-hydroxilase involved in the detoxification of part of these products. The presence of determinate mutations in the gene implies a lack of enzymatic activity and generates the “poor metaboliser” phenotype. By means of the PCR-RFLP technique, the presence of the genetic mutations CYP2D6 3, CYP2D6 4, CYP2D6 6 and CYP2D6 8 has been analysed in a group of 46 patients with PD and in 54 controls, with the aim of studying the possible value of genotype CYP2D6 as a risk factor for Parkinson’s disease in the population of Navarra. The alleles CYP2D6 3, 6 and 8 are not represented in the sample studied. We have not obtained a greater presence of CYP2D6 4 mutations in the patients with respect to the controls (30.43% vs. 44.44%). There is no correlation between Parkinson’s disease and the presence of CYP2D6 4 mutations (odds ratio 0.55; 95% CI 0.24 to 1.25), in homozygosis (odds ratio 0.38; 95% CI 0.04 to 3.76) or in heterozygosis (odds ratio 0.62; 95% CI 0.27 to 1.44). In conclusion, the genotype CYP2D6 does not constitute a risk factor in PD.