Cojocaru Adriana, Braha Adina, Jeleriu Roxana, Andreescu Nicoleta Ioana, Puiu Maria, Ageu Luminita, Folescu Roxana, Zamfir Carmen Lacramioara, Nussbaum Laura Alexandra
Department of Neurosciences, "Victor Babes" University of Medicine and Pharmacy, 2 Eftimie Murgu Square, 300041 Timisoara, Romania.
Doctoral School, "Victor Babes" University of Medicine and Pharmacy, 2 Eftimie Murgu Square, 300041 Timisoara, Romania.
Biomedicines. 2024 Feb 22;12(3):494. doi: 10.3390/biomedicines12030494.
The plasma level of antipsychotics and their metabolites depends on the activity of the cytochrome P450 (CYP) system in the liver. This research aims to test the individual response variability to atypical antipsychotic drugs, depending on the activity of the CYP2D6 enzyme.
In a prospective, noninterventional study, we included 56 adolescents, 51.79% male, diagnosed with schizophrenia. The patients underwent DNA sampling for genotyping SNP by RT-PCR and CYP* allelic variants using Applied Bio-systems™ TaqMan Assays Foster City, CA, USA). and clinical and paraclinical assessments. The effectiveness of the therapy was evaluated with the PANSS scores at baseline and 3, 6, and 12 months after the initiation of an atypical antipsychotic treatment.
Based on the genotyping results, the patients were divided into slow metabolizers (Group 1), extensive metabolizers (Group 2), and intermediate metabolizers (Group 3). The PANSS score showed a significant decrease in Group 2, compared to Group 3 after 3 ( = 0.02), 6 ( = 0.0009), and 12 months ( < 0.0001). The patients in Group 1 showed high PANSS scores, and those in Group 2 had fewer adverse reactions than the other groups.
Assessing the CYP2D6 polymorphism may be useful in clinical pediatric psychiatric practice towards improving clinical results and patients' quality of life.
抗精神病药物及其代谢物的血浆水平取决于肝脏中细胞色素P450（CYP）系统的活性。本研究旨在根据CYP2D6酶的活性测试个体对非典型抗精神病药物的反应变异性。
在一项前瞻性、非干预性研究中，我们纳入了56名被诊断为精神分裂症的青少年，其中51.79%为男性。患者接受DNA采样，通过逆转录聚合酶链反应（RT-PCR）进行单核苷酸多态性（SNP）基因分型，并使用美国加利福尼亚州福斯特城应用生物系统公司的TaqMan检测法检测CYP*等位基因变体。同时进行临床和辅助临床评估。在开始非典型抗精神病药物治疗后的基线、3个月、6个月和12个月，使用阳性和阴性症状量表（PANSS）评分评估治疗效果。
根据基因分型结果，患者被分为慢代谢者（第1组）、广泛代谢者（第2组）和中间代谢者（第3组）。与第3组相比，第2组在治疗3个月（P = 0.02）、6个月（P = 0.0009）和12个月（P < 0.0001）后的PANSS评分显著降低。第1组患者的PANSS评分较高，第2组患者的不良反应比其他组少。
评估CYP2D6基因多态性可能有助于临床儿科精神病学实践，以改善临床结果和患者生活质量。
