Genetics · MU Sofia

57. Pharmacogenetics and pharmacogenomics. Rare monogenic pharmacogenetic defects. Мalignant hyperthermia, atypical butyrylcholine esterase.

Explains pharmacogenetics and pharmacogenomics, comparing a single-gene targeted approach with a genome-wide one in a table, then covers two rare monogenic defects. Malignant hyperthermia is described through its inheritance, genes, pathophysiology sequence, triggering anesthetics, clinical features, diagnosis and management with dantrolene. Atypical butyrylcholinesterase deficiency follows, covering its recessive inheritance, enzyme role with succinylcholine, and prolonged paralysis.

Inside: 7 sections · 9 labelled pictures · 1 table · 15 flashcards · 4 min

Topic 57 of 65 in the MU Sofia syllabus for Genetics (Medicine, Year 3). The free AceMed note covers it in 7 sections, about 508 words (4 min of reading), with 15 flashcards.

In this note

  1. Pharmacogenetics and pharmacogenomics. Rare monogenic pharmacogenetic defects. Мalignant hyperthermia, atypical butyrylcholine esterase.
  2. I. PHARMACOGENETICS
  3. II. PHARMACOGENOMICS
  4. III. RARE MONOGENIC PHARMACOGENETIC DEFECTS
  5. IV. MALIGNANT HYPERTHERMIA (MH)
  6. V. ATYPICAL BUTYRYLCHOLINESTERASE DEFICIENCY
  7. VI. CLINICAL SIGNIFICANCE OF PHARMACOGENETICS

Pharmacogenetics and pharmacogenomics. Rare monogenic pharmacogenetic defects. Мalignant hyperthermia, atypical butyrylcholine esterase.

Response to drugs varies widely between individuals. These differences may involve:

  • drug efficacy,
  • toxicity,
  • dose requirements,
  • risk of severe adverse reactions.

Genetic variation is a major contributor to this variability.

I. PHARMACOGENETICS

Pharmacogenetics is the study of how inherited genetic differences in a single gene affect an individual’s response to a specific drug.

It focuses mainly on:

  • drug-metabolizing enzymes,
  • drug transporters,
  • drug targets (receptors, ion channels).

Key Concept

In pharmacogenetics, a single gene variant can markedly alter drug metabolism or action, leading to:

  • exaggerated drug effect,
  • lack of therapeutic response,
  • serious adverse reactions.

Mechanisms of Pharmacogenetic Variation

  1. 1. Reduced or absent enzyme activity.
  2. 2. Increased enzyme activity (ultrarapid metabolism).
  3. 3. Altered drug receptor sensitivity.
  4. 4. Abnormal ion channel function.

II. PHARMACOGENOMICS

Pharmacogenomics is the study of how multiple genes across the genome influence drug response, using genome-wide approaches.

Difference Between Pharmacogenetics and Pharmacogenomics

Clinical Importance of Pharmacogenomics

  • Individualized drug therapy
  • Optimized drug selection and dosing
  • Reduced adverse drug reactions
  • Basis of personalized / precision medicine

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