Debrisoquine hydroxylase gene polymorphism in familial Parkinson's disease.
Open Access
- 1 August 1994
- journal article
- research article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 57 (8), 911-913
- https://doi.org/10.1136/jnnp.57.8.911
Abstract
Recent molecular genetic studies of the cytochrome P-450 system enzyme CYP2D6, which hydroxylates debrisoquine, have indicated an excess of mutant alleles in patients with Parkinson's disease compared with controls. This indicates that the CYP2D6 locus confers genetic susceptibility to Parkinson's disease. CYP2D6 polymorphism has been investigated in 48 patients with familial Parkinson's disease, from 22 families, and 88 of their unaffected relatives. An excess of CYP2D6 mutant alleles in patients compared with healthy relatives was found only in subjects over the age of 60 years, presumably reflecting the age related prevalence of this disease. There was no difference in distribution of genotypes, however, between sib pairs concordant or discordant for Parkinson's disease. Linkage analysis, exclusively with affected family members, yielded negative lod scores. These data indicate that the CYP2D6 locus is not the major determinant of genetic susceptibility in familial Parkinson's disease.Keywords
This publication has 19 references indexed in Scilit:
- New insights into the cause of Parkinson's diseaseNeurology, 1992
- THE HUMAN CYP2D LOCUS ASSOCIATED WITH A COMMON GENETIC-DEFECT IN DRUG OXIDATION - A G1934-]A BASE CHANGE IN INTRON-3 OF A MUTANT CYP2D6 ALLELE RESULTS IN AN ABERRANT-3' SPLICE RECOGNITION SITE1990
- Identification of the primary gene defect at the cytochrome P450 CYP2D locusNature, 1990
- Oxidative polymorphism of debrisoquine in Parkinson's disease.Journal of Neurology, Neurosurgery & Psychiatry, 1990
- A large kindred with autosomal dominant Parkinson's diseaseAnnals of Neurology, 1990
- A parkinsonian kindredThe Italian Journal of Neurological Sciences, 1989
- Parkinson's disease in a Scottish city.BMJ, 1986
- ECOGENETICS OF PARKINSON'S DISEASE: 4-HYDROXYLATION OF DEBRISOQUINEThe Lancet, 1985
- Strategies for multilocus linkage analysis in humans.Proceedings of the National Academy of Sciences, 1984
- HLA-TYPING IN MULTIPLE SCLEROSIS SIBLING PAIRSThe Lancet, 1982