Term
| Difference between DNA and RNA (i.e. what is missing in DNA?) |
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Definition
OH is missing from the 2' carbon in DNA. Also, in RNA the pentose sugar is ribose (ribonucleic acid) and in DNA it is deoxyribose (deoxyribonucleic acid).
Having OH in RNA at 2; carbon makes it more vulnerable to degradation.
Also, RNA uses the nucleobases A, G, C, and U whereas DNA used A, G, C, and T (RNA uses Uracil instead of Thymine) |
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Term
| Similarities between DNA and RNA (i.e. what is at the 3' carbon in both?) |
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Definition
| OH is required at the 3' carbon in both. This is where a new nucleotide is added when synthesizing DNA (direction is 5' to 3') |
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Term
| What are four things that Keshvara said can cause Favism? |
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Definition
| Fava beans, antimalarials (primaquine), Nitrofurantoin, Sulfonamides |
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Term
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Definition
| science of heredity, refers to single gene function |
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Term
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Definition
| study of entire genome, how a set of genes interact with each other and the environment |
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Term
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Definition
| study of how specific genes cause variability in drug response and toxicity |
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Term
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Definition
| study of how a person's genetic makeup influences response to drugs |
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Term
| Favism is cause by a deficiency in what enzyme? |
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Definition
G6PD (glucose-6-phosphate dehydrogenase)
1) this is an important enzyme in pentose phosphate pathway, it convert glucose to a 5 carbon sugar. during this process it makes NADPH which is the energy needed to make reduced glutathione. Reduced glutathione protects against free radicals (oxidative stress). RBC depend on the pentose phosphate pathway for its glutathione since it has no mitochondria to make its own. Can lead to low RBC count (hemolytic anemia).
So person will have hemolytic anemia and their spleen will also have lots of defective RBCs to destroy, but liver will be unable to keep up with the amount of bilirubin and person will have jaundice.
2) Fava beans have divicine which creates oxidative stress (free radicals). Person is already unable to fight against free radicals since cant make enough reduced glutathione. |
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Term
| Isoniazid is a drug that can accumulate and be toxic in people that are ________ and this is caused by _______________ |
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Definition
| slow acetylators; mutated NAT2 (N-acetyltransferase-2) on chromosome 8 |
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Term
| Succinylcholine (aka Suxamethonium) is dangerous in people with __________ |
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Definition
| butyrlcholinesterase deficiency. Succinylcholine because some muscle paralysis. Butyrylcholinesterase is needed to break down succinylcholine, so if it is absent then muscle paralysis will be too much and patient can die |
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Term
| Primaquine is dangerous in patients with ___________ |
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Definition
| deficiency of G6PD (glucose-6-phosphate dehydrogenase) |
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Term
| Intake of phenylalanine is dangerous in people with ___________ and can cause _______ |
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Definition
HGA oxidase deficiency; alkaptonuria (black urine)
HGA oxidase is needed to turn HGA (Alkapton) into colorless Maleylacetoacetic acid. If HGA oxidase is deficient, HGA can build up and oxidize (turn black) when exposed to air, thus black urine.
Predictable pattern of inheritance, autosomal recessive |
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Term
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Definition
| said that if it were not for the great variability among individuals, medicine might as well be a science and not an art |
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Term
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Definition
-physician
-knew about inborn errors of metabolism
-studied about Alkaptonuria
-proponent of scientific research based medicine
-urine chemistry as indicator of metabolism
-said that every drug is a poison in large doses |
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Term
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Definition
-first to link genetics to how ppl react to drugs
-insight into primaquine, isoniazid, succinylcholine problems
-Father of modern pharmacogenomics |
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Term
| Personalized medicine means to have medicine tailor made for each person. T/F? |
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Definition
False.
It means we should consider the patient's genomic data as a FACTOR in drug therapy (just as we would consider their liver or renal function)
Maximize therapeutic benefit and minimize toxicity for a given drug in a patient |
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Term
| FDA requires genetic testing for some drugs and recommends it for others. What are two out of the four that Keshvara listed as required? |
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Definition
| -Trastuzumab -Cetuximab -Maraviroc -Dasatinib |
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Term
| G6PD deficiency is common where malaria is endemic. T/F? |
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Definition
True! G6PD deficiency is common where malaria (and sickle cell anemia?) is endemic since the G6PD deficiency may partially protect against malaria.
The malarial plasmodium invade the RBC, will use up the NADPH (leads to inability to battle oxidative stress) while also making its own waste (more oxidative stress). The RBC that carry these plasmodium are more likely to be recognized as defective and destroyed/cleared by the spleen. Person is left with RBC free of plasmodium :) |
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