Analysis of CYP2D6 gene haplotype in patients of juvenile onset Parkinson disease

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Juvenile onset Parkinson disease (YOPD) is one of subtype of Parkinson disease (PD), but its onset age of symptom is below 40 and some cases have a genetic background. Since its symptoms are homogenous, it is considered to be suitable for analysis of genetic background. Cytochrome P450 debrisoquine hydroxylase (CYP2D6) has been regarded as one of the main genetic factor in PD.So, we analyze relationships between YOPD and CYP2D6 by determing haplotype of CYP2D6 gene polymorphisms.Genomic DNA samples are extracted from 8 YOPD, 18 PD and 55 age matched normal control. The B mutation in CYP2D6 are detected with the method by Smith et al and Hha I RFLP in exon 6 by Tuneoka et al. In Caucasian populatiopn, it is reported that the frequency of B mutation homozygous genotype (poor metabolizer of debrisoquine hydroxylase) is quite high in PD.But on the contrary, we found that its frequency is quite low in Japanese population and is not useful for genetic marker.Next, we use Hha I RFLP, which is rather high frequency in Japanese population. In conclusion, there is no mutation homozygous type, which is reported to be rather high frequency in Caucasian PD, is not found in Japanese YOPD and PD sample. Furthermore, there are no different allele frequency of Hha I RFLP between YOPD, PD and normal control. These results indicate that there is a possibility that CYP2D6 is not the risk factor of PD or YOPD.