Daniels J, Williams J, Asherson P, McGuffin P, Owen M
Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, United Kingdom.
Am J Med Genet. 1995 Feb 27;60(1):85-7. doi: 10.1002/ajmg.1320600115.
It has been suggested that the cytochrome P450 mono-oxygenase, debrisoquine 4-hydroxylase, is involved in the catabolism and processing of neurotransmitters subsequent to their reuptake into target cells. It is also thought to be related to the dopamine transporter that acts to take released dopamine back up into presynaptic terminals. The present study used the association approach to test the hypothesis that mutations in the genes for debrisoquine 4-hydroxylase (CYP2D6) and the dopamine transporter (DAT) confer susceptibility to schizophrenia. There were no differences in allele or genotype frequencies between patients and controls in the mutations causing the poor metaboliser phenotype in CYP2D6. In addition there was no association found between schizophrenia and a 48bp repeat within the 3' untranslated region of DAT.
有人提出,细胞色素P450单加氧酶(异喹胍4-羟化酶)参与神经递质重新摄取到靶细胞后的分解代谢和加工过程。它也被认为与多巴胺转运体有关,该转运体的作用是将释放的多巴胺重新摄取到突触前终末。本研究采用关联分析方法来检验以下假设:异喹胍4-羟化酶(CYP2D6)基因和多巴胺转运体(DAT)基因的突变会使人易患精神分裂症。在导致CYP2D6代谢不良表型的突变中,患者和对照之间的等位基因或基因型频率没有差异。此外,未发现精神分裂症与DAT 3'非翻译区内的一个48bp重复序列之间存在关联。