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Related Concept Videos

Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

12
Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
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Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

11
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...
11
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

12
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...
12
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

6
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...
6
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

13
The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
13
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

12
Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
12

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Pharmacogenetics.

Jeffrey R Bishop1

  • 1Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, MN, United States.

Handbook of Clinical Neurology
|January 13, 2018
PubMed
Summary
This summary is machine-generated.

Pharmacogenetics uses genetic information to personalize drug therapy for neurologic and psychiatric conditions. Understanding gene variants aids in optimizing drug dosing and predicting adverse reactions for better treatment outcomes.

Keywords:
anticonvulsantantidepressantantipsychoticanxiolyticmood stabilizerpharmacogeneticspharmacogenomics

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Area of Science:

  • Pharmacology
  • Genetics
  • Neuroscience
  • Psychiatry

Background:

  • Pharmacogenetics investigates how genetic variations affect drug responses.
  • Significant research focuses on gene variants influencing drug pharmacokinetics and pharmacodynamics in neurologic and psychiatric treatments.

Purpose of the Study:

  • To review the current status of pharmacogenetic applications in neurologic and psychiatric drug therapy.
  • To discuss medications with established pharmacogenetic data in labeling or guidelines.

Main Methods:

  • Review of literature on pharmacogenetics in neurologic and psychiatric disorders.
  • Analysis of medications with pharmacogenetic information in product labeling and clinical guidelines.
  • Examination of genetic variations in drug metabolizing enzymes, immunological genes, and drug targets.

Main Results:

  • Clinically relevant genetic variations in drug metabolizing enzymes can guide drug dosing for liver-metabolized medications.
  • Genetic testing of immunological genes can identify risks for severe hypersensitivity reactions to certain anticonvulsants.
  • Genetic polymorphisms in drug targets are increasingly linked to treatment response and tolerability.

Conclusions:

  • Pharmacogenetics offers valuable insights for tailoring drug treatments in neurology and psychiatry.
  • Genetic information can optimize drug selection, dosing, and risk assessment for hypersensitivity reactions.
  • Future research will likely expand the role of pharmacogenetics in personalized medicine for these conditions.