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Related Concept Videos

Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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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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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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

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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...
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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...
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Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

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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...
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Pharmacogenomics in epilepsy.

Simona Balestrini1, Sanjay M Sisodiya2

  • 1NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, and Epilepsy Society, Chalfont-St-Peter, Bucks, United Kingdom; Neuroscience Department, Polytechnic University of Marche, Ancona, Italy.

Neuroscience Letters
|January 14, 2017
PubMed
Summary

Genetic factors influence epilepsy treatment response. Precision medicine aims to tailor antiepileptic drugs to individual genetic profiles for improved outcomes.

Keywords:
Adverse drug reactionsDrug resistanceDrug responseEpilepsyPharmacodynamicsPharmacogenomicsPharmacokineticsPrecision medicine

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Area of Science:

  • Neuroscience
  • Pharmacogenetics
  • Genetics

Background:

  • Individual responses to antiepileptic drugs (AEDs) in epilepsy patients show significant variability.
  • Genetic factors are recognized as major contributors to this inter-individual variability in AED treatment efficacy and safety.

Purpose of the Study:

  • To explore the role of genetic variations in epilepsy and their impact on antiepileptic drug response.
  • To highlight the emerging potential of precision medicine in epilepsy treatment.

Main Methods:

  • Review of current literature on epilepsy pharmacogenetics.
  • Analysis of genetic factors influencing drug pharmacokinetics and pharmacodynamics.
  • Examination of genes directly implicated in epilepsy causation.

Main Results:

  • Few robust genetic findings with established evidence in epilepsy pharmacogenetics currently exist.
  • Many reported genetic associations require further validation due to controversial or anecdotal evidence.
  • Advances in genetic sequencing and large-scale projects are expected to expand the evidence base.

Conclusions:

  • Precision medicine, targeting specific genetic mutations, holds promise for dramatically improving epilepsy treatment effectiveness and safety.
  • The field of epilepsy pharmacogenetics is gaining momentum, with potential for clinically applicable results in the near future.