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Related Concept Videos

Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

3
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

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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...
5
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

4
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...
4
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

4
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...
4
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

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

3
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...
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Pharmacokinetics in Pediatric Patients: Drug Excretion01:26

Pharmacokinetics in Pediatric Patients: Drug Excretion

279
In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...
279

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Pharmacogenetics and application in pediatrics.

Virginia Neyro1, Evelyne Jacqz-Aigrain2, Tiphaine Adam de Beaumais3

  • 1Department of paediatric pharmacology and pharmacogenetics, Robert-Debré hospital, AP-HP, 75019 Paris, France.

Therapie
|March 14, 2018
PubMed
Summary

Pharmacogenetics helps personalize drug dosages by considering genetic differences and developmental changes in children. This approach is vital for managing drugs with narrow therapeutic indexes and improving patient safety.

Keywords:
GeneticsPediatricsPharmacology

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Area of Science:

  • Pharmacology
  • Genetics
  • Pediatrics

Background:

  • Drug disposition and response vary significantly between individuals due to genetic factors.
  • Narrow therapeutic index drugs require precise dosing to maximize efficacy and minimize toxicity.
  • Pediatric patients exhibit unique physiological and developmental changes affecting drug metabolism and transport.

Purpose of the Study:

  • To review the implementation of pharmacogenetics in personalized medicine.
  • To highlight pediatric-specific considerations in pharmacogenetics.
  • To discuss ethical aspects related to pediatric pharmacogenetics.

Main Methods:

  • Literature review on pharmacogenetics, personalized medicine, and pediatric drug disposition.
  • Analysis of the impact of genetic variability and ontogeny on drug response.
  • Examination of ethical considerations in applying pharmacogenetics to pediatric populations.

Main Results:

  • Pharmacogenetics enables tailored drug therapy by identifying genetic markers influencing drug response.
  • Pediatric drug disposition is significantly impacted by developmental maturation of metabolic enzymes and transporters.
  • Age-specific dosage requirements are necessary due to ontogeny-related differences in drug exposure.

Conclusions:

  • Pharmacogenetics is a key tool for personalized medicine, optimizing drug therapy and reducing toxicity.
  • Understanding pediatric pharmacogenetics is essential for safe and effective medication use in children.
  • Ethical considerations must guide the application of pharmacogenetics in pediatric clinical practice.