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Related Experiment Videos

Metabolic polymorphisms

A K Daly1, S Cholerton, W Gregory

  • 1Department of Pharmacological Sciences, University of Newcastle upon Tyne, Medical School, U.K.

Pharmacology & Therapeutics
|February 1, 1993
PubMed
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Genetic variations in drug-metabolizing enzymes impact how individuals process medications and respond to chemical exposures. Understanding these polymorphisms is key to personalized medicine and disease prevention.

Area of Science:

  • Pharmacogenetics
  • Biochemistry
  • Molecular Biology

Background:

  • Genetic variations, or polymorphisms, are common in enzymes crucial for metabolizing foreign compounds (xenobiotics).
  • These variations can alter enzyme function, affecting drug efficacy and toxicity.
  • Identifying genetic mutations is vital for understanding individual responses to environmental chemicals and drugs.

Purpose of the Study:

  • To review known and potential genetic polymorphisms in xenobiotic-metabolizing enzymes.
  • To discuss the implications of these genetic variations on drug metabolism.
  • To explore the link between enzyme polymorphisms and susceptibility to chemically-induced diseases.

Main Methods:

  • Literature review of identified polymorphisms in key enzyme families, including Cytochrome P450s, glutathione S-transferases, and N-acetyltransferases.

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  • Analysis of the known genetic basis for defective enzyme phenotypes.
  • Discussion of enzymes with suspected but unconfirmed polymorphisms.

    • Main Results:

    • The majority of mutations causing defective phenotypes have been identified for CYP2D6, glutathione S-transferase mu, N-acetyltransferase 2, and serum cholinesterase.
    • Polymorphisms are confirmed phenotypically for CYP1A1, CYP1A2, CYP2C (mephenytoin metabolism), flavin-linked monooxygenase, paraoxonase, UDP-glucuronosyltransferase, and thiopurine S-methyltransferase, but genetic mechanisms are unclear.
    • Evidence for polymorphisms is less clear for CYP2A6, CYP2E1, CYP2C9, CYP3A4, xanthine oxidase, S-oxidase, epoxide hydrolase, sulphotransferases, and methyltransferases.

    Conclusions:

    • Enzyme polymorphisms significantly influence drug metabolism and individual susceptibility to diseases caused by chemical exposure.
    • Further research is needed to fully elucidate the genetic basis and functional consequences of many enzyme polymorphisms.
    • Understanding these variations is critical for developing personalized treatment strategies and preventative measures against chemical toxicity.