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Related Concept Videos

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450 isoenzymes,...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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Related Experiment Video

Updated: May 14, 2026

Mass Spectrometry and Luminogenic-based Approaches to Characterize Phase I Metabolic Competency of In Vitro Cell Cultures
10:44

Mass Spectrometry and Luminogenic-based Approaches to Characterize Phase I Metabolic Competency of In Vitro Cell Cultures

Published on: March 28, 2017

Regulatory polymorphisms in CYP2C19 affecting hepatic expression.

Jonathan C Sanford, Yingying Guo, Wolfgang Sadee

    Drug Metabolism and Drug Interactions
    |February 16, 2013
    PubMed
    Summary
    This summary is machine-generated.

    The CYP2C19*17 genetic variant significantly increases liver CYP2C19 expression and activity, potentially impacting drug metabolism. Additional genetic factors may further influence CYP2C19 levels, especially in African populations.

    Related Experiment Videos

    Last Updated: May 14, 2026

    Mass Spectrometry and Luminogenic-based Approaches to Characterize Phase I Metabolic Competency of In Vitro Cell Cultures
    10:44

    Mass Spectrometry and Luminogenic-based Approaches to Characterize Phase I Metabolic Competency of In Vitro Cell Cultures

    Published on: March 28, 2017

    Area of Science:

    • Pharmacogenomics
    • Molecular biology
    • Drug metabolism

    Background:

    • Cytochrome P450 2C19 (CYP2C19) is crucial for metabolizing numerous drugs, including activating clopidogrel.
    • The CYP2C19*17 allele is linked to ultra-rapid metabolizer phenotypes due to increased gene transcription.

    Purpose of the Study:

    • To quantify the extent to which CYP2C19*17 enhances CYP2C19 expression in human liver.
    • To identify if other regulatory genetic variants contribute to variations in CYP2C19 expression.

    Main Methods:

    • Quantitative real-time PCR (qRT-PCR) measured CYP2C19 mRNA levels.
    • Enzyme activity was assessed using S-mephenytoin as a substrate.
    • Sequencing of CYP2C19 exons and promoter regions identified polymorphisms.

    Main Results:

    • CYP2C19*17 heterozygotes and homozygotes showed 1.8-fold and 2.9-fold higher mRNA levels, respectively.
    • Increased allelic mRNA expression (~1.8-fold) and a 2.3-fold elevation in enzyme activity were observed in CYP2C19*17 carriers.
    • Unexplained significant increases in expression and activity in specific samples suggest additional regulatory variants.

    Conclusions:

    • The CYP2C19*17 polymorphism enhances hepatic CYP2C19 expression approximately 2-fold.
    • This enhancement may offset the effects of loss-of-function alleles like CYP2C19*2.
    • Other regulatory factors likely influence CYP2C19 expression, particularly in African American populations.