{"title":"抗精神病转运蛋白的药物遗传学检测:一名32岁女性治疗难治性精神分裂症病例报告","authors":"S. M. Osipova, N. S. Shnayder","doi":"10.52667/2712-9179-2022-2-1-98-106","DOIUrl":null,"url":null,"abstract":"Schizophrenia is a common and socially significant mental disorder requiring long-term use of antipsychotics (APs). Long-term use of APs increases the risk of developing adverse drug reactions (ADRs) and / or treatment resistance in some patients. This may be due to a genetically determined impairment of APs transport across the blood-brain barrier (BBB) and the membrane of APs target neurons in the brain. Pharmacogenetic testing (PGx) is a method to identify a group of patients with a high risk of developing AP-induced ADRs. Foreign panels for PGx do not include non-functional variants of genes encoding APs transporter proteins. However, our experience ofusing PGx to search for low-functional and non-functional single-nucleotide variants (SNVs)/polymorphisms of three genes (ABCB1, ABCG2, ABCC1) encoding APs transporter proteins demonstrates the importance of this new personalized approach to the choice of APs and its dosing in patients with a slow transporter PGx profile. The main purpose of the work is to present the experience of using pharmaco-genetic testing (PGx) in a 32-year-old patient with treatment-resistant schizophrenia and a medical history of AP-induced ADRs.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2022-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Pharmacogenetic Testing of Antipsychotic Transporter Proteins: A Case Report in a 32-Year-Old Woman with Treatment-Resistant Schizophrenia\",\"authors\":\"S. M. Osipova, N. S. Shnayder\",\"doi\":\"10.52667/2712-9179-2022-2-1-98-106\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Schizophrenia is a common and socially significant mental disorder requiring long-term use of antipsychotics (APs). Long-term use of APs increases the risk of developing adverse drug reactions (ADRs) and / or treatment resistance in some patients. This may be due to a genetically determined impairment of APs transport across the blood-brain barrier (BBB) and the membrane of APs target neurons in the brain. Pharmacogenetic testing (PGx) is a method to identify a group of patients with a high risk of developing AP-induced ADRs. Foreign panels for PGx do not include non-functional variants of genes encoding APs transporter proteins. However, our experience ofusing PGx to search for low-functional and non-functional single-nucleotide variants (SNVs)/polymorphisms of three genes (ABCB1, ABCG2, ABCC1) encoding APs transporter proteins demonstrates the importance of this new personalized approach to the choice of APs and its dosing in patients with a slow transporter PGx profile. The main purpose of the work is to present the experience of using pharmaco-genetic testing (PGx) in a 32-year-old patient with treatment-resistant schizophrenia and a medical history of AP-induced ADRs.\",\"PeriodicalId\":414041,\"journal\":{\"name\":\"Personalized Psychiatry and Neurology\",\"volume\":\"1 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-05-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Personalized Psychiatry and Neurology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.52667/2712-9179-2022-2-1-98-106\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Personalized Psychiatry and Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.52667/2712-9179-2022-2-1-98-106","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Pharmacogenetic Testing of Antipsychotic Transporter Proteins: A Case Report in a 32-Year-Old Woman with Treatment-Resistant Schizophrenia
Schizophrenia is a common and socially significant mental disorder requiring long-term use of antipsychotics (APs). Long-term use of APs increases the risk of developing adverse drug reactions (ADRs) and / or treatment resistance in some patients. This may be due to a genetically determined impairment of APs transport across the blood-brain barrier (BBB) and the membrane of APs target neurons in the brain. Pharmacogenetic testing (PGx) is a method to identify a group of patients with a high risk of developing AP-induced ADRs. Foreign panels for PGx do not include non-functional variants of genes encoding APs transporter proteins. However, our experience ofusing PGx to search for low-functional and non-functional single-nucleotide variants (SNVs)/polymorphisms of three genes (ABCB1, ABCG2, ABCC1) encoding APs transporter proteins demonstrates the importance of this new personalized approach to the choice of APs and its dosing in patients with a slow transporter PGx profile. The main purpose of the work is to present the experience of using pharmaco-genetic testing (PGx) in a 32-year-old patient with treatment-resistant schizophrenia and a medical history of AP-induced ADRs.