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J. Biochem, 1993, Vol. 114, No. 2 263-266
© 1993 Japanese Biochemical Society

other

A Novel Cytochrome P-450IID6 Mutant Gene Associated with Parkinson's Disease

Yutaka Tsuneoka*, Yoshinori Matsuo*, Kazuhiko Iwahashi**, Hiroaki Takeuchi*** and Yoshiyuki Ichikawa*

*Department of Biochemistry, Kagawa Medical School Miki-cho, Kita-gun, Kagawa 761-07
**Department of Psychiatry, Kagawa Medical School Miki-cho, Kita-gun, Kagawa 761-07
***Third Department of Internal Medicine, Kagawa Medical School Miki-cho, Kita-gun, Kagawa 761-07

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 Hhal 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 Hhal polymorphism in the CYP2D6 gene is a part of the molecular basis of Parkinson's disease.


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