Pharmacogenetics Flashcards
define genomics
relating to the genome
define pharmacokinetics
how the body affects the drug
define pharmacodynamics
how the drug affects the body
define stratified medicines
Selecting therapies for groups of patients with shared biological characteristics
define personalised medicine
therapies which are tailored to the individual
define germline mutation
hereditary mutation
define somatic
acquired mutation
what genetic variations affect drugs.
deletion/insertion SNP’s Gene amplification Promoter polymorphisms Translocations
How do genetic variations cause change in the drugs used to treat conditions
change the protein activity of structure which leads to altered treatment outcomes.
what factors of drug action do genetic variations cause
absorption, activation, altered target, catabolism and excretion.
How can knowing genetic variation help with providing treatment.
Identify genetic variations that lead to altered outcomes
Change dose of drug where appropriate
Use a different drug that works better and/or has reduced toxicity
Guide new targeted drug development
Stratified/personalised medicine
Reduce financial costs of inappropriate treatment
what is the function of Thiopurine methyltransferase
inactivates certain drugs.
what drug commonly used as a immunosuppressant used in organ transplantation and autoimmune disease does thiopurine methyltransferase inactivate
azathiopurine.
SNP in thiopurine methyltransferase has what effects
azathioprine as it isn’t being inactivated.
Severe toxicity if both copies of the gene have the variant
what is the function of N- acetyltransferase activity.
inactivates drugs
in which organ are N- acetyltransferases found
liver
by what method do N- acetyltransferases inactivate drugs
acetylation
why do N- acetyltransferases have both fast and slow acetylators.
“Fast” and “slow” acetylators – due to SNP variations in genes
what side effects do slow acetylators have
neuritis and liver toxicity
what occupation have slow aceylators
farmers
what occupation have fast aceylators
communities dependent on meat.
what is the effect of Succinylcholine
relaxes all muscles and hence prevent you from breathing.
what gene mutation causes the effects of Succinylcholine to last for more than an hour increasing the risk of death
BCHE gene
what medication is succinylcholine used in
anaesthethics
Which gene and at what location does the mitochondrial DNA mutation cause problems.
Mitochondrial MT-RNR1 gene encodes mitochondrial 12s rRNA
G>A mutation at nucleotide position 1555 causes non-syndromic hearing loss.
what antibiotic is more likely to bind to the new mitochondrial mutation resulting in early hearing difficulties
aminoglycoslides.
Is the Mitochondrial MT-RNR1 gene maternally or paternally inherited
mitochondria- maternally.
what molecule does warfarin inhibit
VKOR.
why does warfarin dosage vary 20x between individuals (variations in which 2 genes)
due to variation in genotyping of CYP2C9 (one of the cytochrome p450 family) and vitamin K oxidoreductase complex-1 (VKORC1)
Are cancer mutations germline or somatic
somatic
what disease is Trastuzumab (Herceptin) used to treat
breast cancer
what receptor is commonly over expressed in breast cancer and is targeted by the drug perception (trastuzumab) which is a monoclonal antibody
HER2 receptor
what gene does most melanomas have a mutation in
BRAF gene- val to glu.
what drug can target the BRAF gene in melanomas
Vemurafenib
