Personalized Medicine Overview
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What is the primary goal of pharmacogenetics in personalized medicine?

  • To analyze the biochemical pathways of disease progression
  • To screen asymptomatic individuals for disease susceptibility
  • To predict disease outcomes based on environmental factors
  • To determine drug therapy based on genetic variations (correct)

    • Which of the following best describes the absorption phase of pharmacokinetics?

  • The drug is metabolized into active or inactive metabolites
  • The drug is distributed to the target tissues after entering the bloodstream
  • The drug enters the bloodstream typically through intestinal absorption (correct)
  • The drug and its metabolites are eliminated from the body

    • In which phase of xenobiotic metabolism are lipophilic compounds converted to water-soluble products?

  • Excretion phase
  • Phase I metabolism (correct)
  • Distribution phase
  • Phase II metabolism

    • What role does the Cytochrome P450 system play in liver function?

    <p>It metabolizes xenobiotics and drugs into less harmful components</p> Signup and view all the answers

    Which statement accurately describes personalized medicine's approach to predicting disease severity?

    <p>It utilizes polymorphic variations in non-disease causing genes</p> Signup and view all the answers

    Which enzyme is primarily responsible for the hydroxylation process during Phase I of drug metabolism?

    <p>Cytochrome P450</p> Signup and view all the answers

    What is the main consequence of having the CYP2C19 poor metabolizer allele in individuals of Asian or Pacific Islander descent?

    <p>Increased risk of toxic levels from specific antidepressants</p> Signup and view all the answers

    In Phase II of drug metabolism, what is the primary role of the addition of a sugar or acetyl group to a hydroxyl group?

    <p>To detoxify drugs and aid in excretion</p> Signup and view all the answers

    What defines a polymorphism in the context of drug metabolism?

    <p>A DNA sequence variation that is common in the population</p> Signup and view all the answers

    How does the glucuronidation process function within drug metabolism?

    <p>It adds glucuronic acid to make drugs more water-soluble</p> Signup and view all the answers

    What impact does being a slow acetylator have on drug metabolism?

    <p>Increases the risk of toxic effects from medications</p> Signup and view all the answers

    Which of the following variants affects the metabolism of the anticoagulant warfarin?

    <p>VKORC1</p> Signup and view all the answers

    What does the term 'ultrafast metabolizers' indicate in drug metabolism phenotypes?

    <p>People who metabolize drugs at an accelerated rate potentially leading to under-treatment</p> Signup and view all the answers

    What is the consequence of G6PD deficiency when exposed to oxidant drugs?

    <p>Overwhelming oxidative damage and hemolysis of red blood cells</p> Signup and view all the answers

    Which enzyme is involved in the metabolic pathway for bilirubin excretion?

    <p>Glucuronate transferase</p> Signup and view all the answers

    Which of the following is NOT a way personalized medicine is used?

    <p>Predicting environmental factors</p> Signup and view all the answers

    Pharmacokinetics includes the processes of absorption, distribution, metabolism, and excretion.

    <p>True</p> Signup and view all the answers

    What does the acronym ADME stand for in pharmacokinetics?

    <p>Absorption, Distribution, Metabolism, Excretion</p> Signup and view all the answers

    The liver's role in metabolizing xenobiotics primarily involves the __________ system.

    <p>Cytochrome P450</p> Signup and view all the answers

    Match the following liver functions with their descriptions:

    <p>Intermediary metabolism = Conversion of nutrients into energy and cellular components Coagulation/synthesis of plasma proteins = Production of proteins essential for blood clotting Heme/bilirubin metabolism = Processing of hemoglobin breakdown products Ethanol metabolism = Breakdown of alcohol for elimination from the body</p> Signup and view all the answers

    What is the primary function of the enzyme cytochrome P450?

    <p>Catalyzing hydroxylation of compounds</p> Signup and view all the answers

    Poor metabolizers are at risk for having toxic levels of drugs accumulate in their system.

    <p>True</p> Signup and view all the answers

    What is the role of glucuronate transferase in drug metabolism?

    <p>To mediate glucuronidation by adding glucuronic acid to substrates.</p> Signup and view all the answers

    Phase II drug metabolism involves the addition of a ______ group to the hydroxyl group from Phase I.

    <p>sugar, acetyl, or methyl</p> Signup and view all the answers

    Match the following cytochrome P450 variants with their effects on drug response:

    <p>CYP2C19 = Higher risk of accumulating toxic levels of certain antidepressants CYP2D6 = Altered metabolism of various drugs CYP2C9 = Affects rate of warfarin metabolism CYP3A4 = Major enzyme for drug metabolism in the liver</p> Signup and view all the answers

    What is a common result of being a slow acetylator?

    <p>Increased risk of toxic drug effects</p> Signup and view all the answers

    The addition of glucuronic acid during Phase II does not aid in excreting substances.

    <p>False</p> Signup and view all the answers

    What genetic variation affects the metabolism efficiency of warfarin in individuals?

    <p>CYP2C9 polymorphisms</p> Signup and view all the answers

    G6PD deficiency can lead to ______ after exposure to oxidant drugs.

    <p>hemolysis</p> Signup and view all the answers

    The primary function of pharmacodynamics in pharmacogenetics involves:

    <p>Variability in drug response due to genetic factors</p> Signup and view all the answers

    Study Notes

    Personalized Medicine

    • Definition: Tailors healthcare to individual patients based on genetic factors.
    • Screening: Tests asymptomatic individuals for disease susceptibility.
    • Pharmacogenetics: Matches drug therapy to individual genetic variations affecting drug metabolism and response.
    • Disease Severity Prediction: Uses genetic polymorphisms to predict disease severity.

    Pharmacokinetics

    • Definition: Study of how the body absorbs, distributes, metabolizes, and excretes drugs (ADME).
    • Absorption: Involves entry of the drug into the bloodstream, primarily through intestines.
    • Distribution: Refers to the transport of the drug to the site of action.
    • Metabolism: Breakdown of compounds into active or inactive metabolites.
    • Excretion: Elimination of the drug and metabolites from the body.

    Liver Function

    • Key Roles:
      • Intermediary metabolism and synthesis of plasma proteins.
      • Metabolism of heme and bilirubin as well as purines and pyrimidines.
      • Ethanol metabolism and production of VLDL, cholesterol, and bile.
      • Involvement in xenobiotic metabolism via Cytochrome P450 enzymes.

    Xenobiotics and Cytochrome P450

    • Definition: Toxic compounds that the body can't efficiently degrade.
    • Metabolism: Phase I converts lipophilic compounds to water-soluble forms; Phase II attaches functional groups for detoxification.
    • Phase I Enzymes: Cytochrome P450 performs hydroxylation to increase water solubility.

    Cytochrome P450 Family

    • Characteristics: Large enzyme family with 56 genes; crucial for drug metabolism.
    • Key Enzymes for Pharmacogenetics: CYP1A1, CYP1A2, CYP2C9, CYP2C19, CYP2D6, CYP3A4.

    Polymorphisms vs Mutations

    • Polymorphism: Common population variations in DNA sequences.
    • Mutation: Any deviation from normal DNA sequences.

    Phase I Drug Metabolism Phenotypes

    • Normal Metabolizers: Typical response to medications.
    • Poor Metabolizers: Risk of drug toxicity due to accumulation.
    • Ultrafast Metabolizers: Possible ineffectiveness of standard drug doses.

    Ethnic Variations in Drug Response

    • Example: Asian or Pacific Islanders may carry CYP2C19 poor metabolizer alleles, increasing toxicity risk when using specific antidepressants.

    Phase II Drug Metabolism

    • Glucuronidation: Addition of glucuronic acid to drugs for enhanced solubility; primarily mediated by glucuronate transferase in the liver.

    N-Acetyltransferase Polymorphisms

    • Impact on Drug Response:
      • Slow Acetylators: Increased risk of drug toxicity.
      • Fast Acetylators: May require higher doses for effective therapy.

    Thiopurine Methyltransferase Polymorphisms

    • Impact on Metabolism: Partial deficiency can improve drug effectiveness or increase toxicity based on dosage.

    Pharmacodynamics

    • Definition: Study of genetic influences on drug response through allelic variation in drug targets.

    Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

    • Significance: Most common enzyme defect can lead to oxidative damage in red blood cells if exposed to oxidant drugs.

    Case Study: Warfarin

    • Purpose: Anticoagulant for thromboembolism prevention.
    • Mechanism: Inhibits VKORC1 enzyme.
    • Genetic Impact: CYP2C9 and VKORC1 polymorphisms influence drug metabolism and efficacy, affecting VKORC1 protein production.

    Personalized Medicine

    • Definition: Tailors healthcare to individual patients based on genetic factors.
    • Screening: Tests asymptomatic individuals for disease susceptibility.
    • Pharmacogenetics: Matches drug therapy to individual genetic variations affecting drug metabolism and response.
    • Disease Severity Prediction: Uses genetic polymorphisms to predict disease severity.

    Pharmacokinetics

    • Definition: Study of how the body absorbs, distributes, metabolizes, and excretes drugs (ADME).
    • Absorption: Involves entry of the drug into the bloodstream, primarily through intestines.
    • Distribution: Refers to the transport of the drug to the site of action.
    • Metabolism: Breakdown of compounds into active or inactive metabolites.
    • Excretion: Elimination of the drug and metabolites from the body.

    Liver Function

    • Key Roles:
      • Intermediary metabolism and synthesis of plasma proteins.
      • Metabolism of heme and bilirubin as well as purines and pyrimidines.
      • Ethanol metabolism and production of VLDL, cholesterol, and bile.
      • Involvement in xenobiotic metabolism via Cytochrome P450 enzymes.

    Xenobiotics and Cytochrome P450

    • Definition: Toxic compounds that the body can't efficiently degrade.
    • Metabolism: Phase I converts lipophilic compounds to water-soluble forms; Phase II attaches functional groups for detoxification.
    • Phase I Enzymes: Cytochrome P450 performs hydroxylation to increase water solubility.

    Cytochrome P450 Family

    • Characteristics: Large enzyme family with 56 genes; crucial for drug metabolism.
    • Key Enzymes for Pharmacogenetics: CYP1A1, CYP1A2, CYP2C9, CYP2C19, CYP2D6, CYP3A4.

    Polymorphisms vs Mutations

    • Polymorphism: Common population variations in DNA sequences.
    • Mutation: Any deviation from normal DNA sequences.

    Phase I Drug Metabolism Phenotypes

    • Normal Metabolizers: Typical response to medications.
    • Poor Metabolizers: Risk of drug toxicity due to accumulation.
    • Ultrafast Metabolizers: Possible ineffectiveness of standard drug doses.

    Ethnic Variations in Drug Response

    • Example: Asian or Pacific Islanders may carry CYP2C19 poor metabolizer alleles, increasing toxicity risk when using specific antidepressants.

    Phase II Drug Metabolism

    • Glucuronidation: Addition of glucuronic acid to drugs for enhanced solubility; primarily mediated by glucuronate transferase in the liver.

    N-Acetyltransferase Polymorphisms

    • Impact on Drug Response:
      • Slow Acetylators: Increased risk of drug toxicity.
      • Fast Acetylators: May require higher doses for effective therapy.

    Thiopurine Methyltransferase Polymorphisms

    • Impact on Metabolism: Partial deficiency can improve drug effectiveness or increase toxicity based on dosage.

    Pharmacodynamics

    • Definition: Study of genetic influences on drug response through allelic variation in drug targets.

    Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

    • Significance: Most common enzyme defect can lead to oxidative damage in red blood cells if exposed to oxidant drugs.

    Case Study: Warfarin

    • Purpose: Anticoagulant for thromboembolism prevention.
    • Mechanism: Inhibits VKORC1 enzyme.
    • Genetic Impact: CYP2C9 and VKORC1 polymorphisms influence drug metabolism and efficacy, affecting VKORC1 protein production.

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    Description

    Explore the concept of personalized medicine, which tailors healthcare to individual patients based on their genetic make-up. This quiz covers key applications such as screening, pharmacogenetics, and predicting disease severity. Test your knowledge and understanding of how precision medicine revolutionizes patient care.

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