Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.30.2 (endonuclease)
 18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Previous studies have shown that many neuroleptics are metabolized by debrisoquine 4-hydrolase (CYP2D6), which exhibits genetic polymorphisms. In Oriental populations, poor metabolizers (PMs) with a lack of CYP2D6 activity are rare, although the CYP2D6*10 allele, which is associated with decreased CYP2D6 activity, is commonly found. The authors examined the relationship between tardive dyskinesia (TD) and CYP2D6 polymorphisms, including the CYP2D6*10 allele. Subjects consisted of 100 Japanese schizophrenics. TD was evaluated using the Abnormal Involuntary Movement Scale (AIMS). Genotyping for the presence of the CYP2D6*3, CYP2D6*4 and CYP2D6*10 alleles was performed using allele-specific PCR amplification and endonuclease digestions. The frequency of the CYP2D6*10 allele was 0.52, and only one allele showed the PM genotype. There was a significant difference in the allelic distribution of CYP2D6*10 between subjects with and without TD. We also found significant genotypic and allelic associations with dichotomized total AIMS scores of 6 or more (moderate or severe abnormal movements) and with scores of less than 6 (mild or no movements). After these associations were adjusted for confounding variables (gender, age, duration of illness and neuroleptic dose) by regression analysis, the CYP2D6*10 genotype showed significant association with the total AIMS score, and a modest association with TD occurrence. These results indicate that the CYP2D6*10 genotype may play a role in the development of moderate or severe abnormal movements.
 ...
PMID:Tardive dyskinesia and debrisoquine 4-hydroxylase (CYP2D6) genotype in Japanese schizophrenics. 971 6

Possible involvement of serotonergic (5-hydroxytryptamine: 5-HT) receptors in the pathophysiology of tardive dyskinesia (TD) has been suggested. In the present study, the relationship between the 5-HT(6) receptor gene (HTR6) polymorphisms and TD was studied in 173 Japanese patients with schizophrenia. The 267C/T allele of HTR6 was genotyped using PCR amplification followed by endonuclease digestion. The patients with the three 267C/T genotypes showed no significant difference in gender, age, duration of illness, or current antipsychotic dose. In addition, there were no significant differences in total AIMS scores among patients with the three genotypes. Moreover, no significant differences in genotypes and allele frequencies were observed between subjects with and without TD. These results suggest that the 267C/T polymorphism of HTR6 does not confer increased susceptibility to TD.
 ...
PMID:Genetic association analysis of 5-HT(6) receptor gene polymorphism (267C/T) with tardive dyskinesia. 1205 22