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  • Title: A novel cytochrome P-450IID6 mutant gene associated with Parkinson's disease.
    Author: Tsuneoka Y, Matsuo Y, Iwahashi K, Takeuchi H, Ichikawa Y.
    Journal: J Biochem; 1993 Aug; 114(2):263-6. PubMed ID: 7903297.
    Abstract:
    Genetic polymorphism of the CYP2D6 gene [phenotypically individuals are either poor metabolizers (PM) or extensive metabolizers (EM)] has been reported to be associated with susceptibility to Parkinson's disease. We analyzed CYP2D6 genes from Japanese patients and controls, and found that EM/PM polymorphism is not a suitable marker for populations with a low PM frequency. However, a novel mutant highly associated with Parkinson's disease was discovered. The mutation was located at the HhaI site in exon 6 and changed a conserved amino acid residue, Arg296, to Cys296. The risk factor for the mutant homozygote was 5.56 (95% CI, 1.30-23.82). These results suggest that the HhaI polymorphism in the CYP2D6 gene is a part of the molecular basis of Parkinson's disease.
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