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Chapter 4: pharmacogenetics

Chapter 4: pharmacogenetics. RB Raffa, PhD. Want to know for all drugs. A Absorption D Distribution M Metabolism E Elimination MoA Mechanism of action AE’s Adverse effects DI’s Drug interactions Pt Patient characteristics. Real life:.

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Chapter 4: pharmacogenetics

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  1. Chapter 4: pharmacogenetics RB Raffa, PhD

  2. Want to know for all drugs A Absorption D Distribution M Metabolism E Elimination MoA Mechanism of action AE’s Adverse effects DI’s Drug interactions Pt Patient characteristics

  3. Real life: • 6-mercaptopurine is used to treat acute lymphoblastic leukemia in children • it is metabolized by TPMT (thiopurine methyltransferase) • toxicity (overdose) leads to death • what can we do?

  4. Pharmacogenetics– Pharmacogenomics • how genes (genotype) account for observed differences in response to drugs (phenotype) • how information about genotype-phenotype can be used to predict or direct ‘individualized medicine’

  5. Background • inherited information is carried in genes (specific strands of DNA on chromosomes) • the total genetic information is the genome • a gene encodes a specific sequence of amino acids (protein) • transcription and translation occur when a gene is activated (by a promoter) • the result of gene expression = gene products

  6. Gene products

  7. Review Q Which is the non-coding region of a gene? (A) exon (B) intron (C) promoter (D) SNP

  8. Review Q The same gene can lead to different proteins: (A) true (B) false

  9. Polymorphisms • alternate forms of a gene >1% freq. • polymorphism in any gene region can lead to altered activity of a gene product • SNPs are the most common variants in humans

  10. SNP types synonymous non-synonymous

  11. Real life: • 6-mercaptopurine is used to treat acute lymphoblastic leukemia • it is metabolized by TPMT (thiopurine methyltransferase) • toxicity (overdose) in PMs of TPMT standard dose heterozygous 65% dose 6-10% dose homozygous

  12. Review Q SNPs are defined as mutations that involve a single DNA base substitution that occurs with the frequency of at least ____ % in a population. (A) 1 (B) 10 (C) >50

  13. Review Q SNPs that do not lead to a change in a protein’s amino acid sequence because of the redundancy in the genetic code are called ________ . (A) synonymous (B) non-synonymous

  14. Clinical example 1:CYP2D6 & codeine • codeine as prodrug • poor metabolizers – underdose • extensive or rapid metabolizers – overdose

  15. Clinical example 2:warfarin http://www.healthanddna.com/WarfarinGenetics/WarfarinGenetics_viewlet_swf.html

  16. end

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