Pharmacogenetic Testing of Antipsychotic Transporter Proteins: A Case Report in a 32-Year-Old Woman with Treatment-Resistant Schizophrenia
Open Access
- 15 May 2022
- journal article
- Published by V.M. Bekhterev National Research Medical Center for Psychiatry and Neurology in Personalized Psychiatry and Neurology
- Vol. 2 (1), 98-106
- https://doi.org/10.52667/2712-9179-2022-2-1-98-106
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.Keywords
This publication has 9 references indexed in Scilit:
- A meta-analysis of effectiveness of real-world studies of antipsychotics in schizophrenia: Are the results consistent with the findings of randomized controlled trials?Translational Psychiatry, 2021
- ABCB1, ABCG2, ABCC1, ABCC2, and ABCC3 drug transporter polymorphisms and their impact on drug bioavailability: what is our current understanding?Expert Opinion on Drug Metabolism & Toxicology, 2021
- How Can Drug Metabolism and Transporter Genetics Inform Psychotropic Prescribing?Frontiers in Genetics, 2020
- Structural and Mechanistic Principles of ABC TransportersAnnual Review of Biochemistry, 2020
- Antipsychotics: Mechanisms underlying clinical response and side-effects and novel treatment approaches based on pathophysiologyNeuropharmacology, 2019
- Pharmacogenetics of schizophrenia in real clinical practice: a clinical caseNeurology, Neuropsychiatry, Psychosomatics, 2018
- ABCB1 and ABCC1 single-nucleotide polymorphisms in patients treated with clozapinePharmacogenomics and Personalized Medicine, 2017
- Antipsychotic Drugs Inhibit the Function of Breast Cancer Resistance ProteinBasic & Clinical Pharmacology & Toxicology, 2008
- MDR‐ABC TransportersPublished by Springer Science and Business Media LLC ,2008