Term
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Definition
nuclear hormone receptor type of transcription factor. regulate adipocyte differentiation. polymorphisms affect resistance and susceptibility to DM2
drugs?: thiazolidinediones |
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Term
| Gene associated with Alzheimer susceptibility |
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Definition
ApoE.
ApoE3=wild type
ApoE4=homozygous associated with late onset familial types of Alzheimer |
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Term
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Definition
30% with DM 1 are heterozygous for HLA-DQ2/HLADQ8
HLA-DQ6 provides dominant protection |
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Term
| MTHFR: what is the mutation and what 2 things is it associated with? |
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Definition
677TT (homozygous) results in
1. increased homocysteine levels in pregnant woman if they have low folate leading to NTD.
2. increased risk for premature CAD with those who have low folate levels |
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Term
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Definition
32bp deletion in CCR5 results in a nonfunctional receptor.
homozygosity for this deletion means can't be infected by HIV.
heterozygous means delayed progression of HIV
BUT increased risk of west nile. |
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Term
| MC1R is a modifier for what gene? |
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Definition
MC1R is a modifier of CDKN2A, a cyclin dependent kinase inhibitor.
It is both a low-penetrance melanoma gene and a modifier gene. |
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Term
| Let7 is involved in the regulation of what gene? |
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Definition
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Term
| CYP2C9 and what other gene can be used to dose what drug? |
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Definition
| CYP2C9 and VKORC1 can be used to dose warfarin; a K+ dependent anticoagulant |
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Term
| CYP2D6 and ecstasy...why are they so awesome together? |
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Definition
| MDMA inhibits reuptake of serotnin and facilitates its release. MDMA is metabolized by CYP2D6 BUT MDMA also inhibits CYP2D6. therefore second pill has a greater affect. |
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Term
| CYP3A: where is it expressed and why does it complicate drug dosing regimes? |
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Definition
| liver and intestines. increased gene expression widely induced by drugs. induction by one drug increases rate of metabolism in all drugs. |
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Term
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Definition
N-acetyltransferase 1. acetylates aromatic amines (tobacco carcinogens).
variable acetylation confers risk of cancer.
rapid/rapid=RR1.0
rapid/wt=RR4.0
wt/wt=RR 6.4
wt/slow=you're screwed if you smoke |
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Term
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Definition
N-acetyltransferase 2- acetylate isoniazid (tb drug)
there are slow and rapid acetylators. hepatotoxicity is more common in the slow guys. |
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Term
| TPMT inactivates what drug? how do genetic variations affect dosing? |
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Definition
Mercaptopurine-used in the treatment of childhood ALL.
increasing dosage in high activity children improves treatment outcomes. |
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Term
| UDP-glycosyltransferase 1 family can have a mutation. what drug toxicity can this result in? |
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Definition
UGT1A1*28 homozygotes have lower glucoronidation rates. increased irinotecan toxicity. what does irinotecan do? (OMG 2 part question? highlight white text below)
topoisomerase I inhibitor |
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Term
| LCA-leber's congenital amaurosis: what treatment did they try? |
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Definition
| direct uniocular injection of an AAV vector into the retina. visual acuity improved slightly. |
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Term
| TP53 mutations equal what syndrome |
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Definition
| Li-Fraumeni and the 4Bs: brain, blood, breast and bone |
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Term
| 2-DIGE: separates proteins based on what two properties |
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Definition
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Term
| AML1/ETO is associated with what condition and what translocation? what does it recruit? |
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Definition
| associated with MDS which is a t(8;21) translocation. recruits HDAC and DNMT INSTEAD of HAT. this leads to gene silencing...probably of tumor suppressor genes. |
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Term
| DNMTi: example and what does it treat? |
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Definition
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Term
| HDACi: example and what does it treat? |
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Definition
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Term
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Definition
| formalin fixed paraffin embedded OR Fédération de la Fonction Publique Européenne (Staff Representation at the European Commission) |
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Term
| DGCR8 is? what is the invertebrate analogue? |
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Definition
| digeorge syndrome critical region 8. binds pri-mRNAs. Pasha in invertebrates |
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Term
| What precesses pri-miRNA into smaller stem loops? |
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Definition
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Term
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Definition
| cleaves pre-miRNA into double stranded 22nt miRNA molecules |
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Term
| RISC complex does what? where is it found? |
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Definition
| P-body, facilitates alignment of miRNA and mRNA duplex |
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Term
| VHL proteins do? VHL also is an acronym for? |
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Definition
monitor oxygen tension. allow for functional HIF-1 transcription factor when low oxygen tension.
Von Hippel-Lindau syndrome=inherited cancer syndrome |
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Term
| VEGF stands for? targets what cell type? |
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Definition
| vascular endothelial growth factor. binds to receptors on surface of endothelial cells and stimulates their proliferation. |
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Term
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Definition
| binds to CD36 receptor on surface of endothelial cells. inhibits their proliferation. Therefore it is an anti-angiongenic factor. |
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Term
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Definition
| inhibitor of matrix metaloproteinase 2. therefore it inhibits the ECM breakdown. |
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Term
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Definition
types 16 and 18 are associated with the highest risk. viral gene products E6 and E7 are invovled
E6- binds p53 and hastens degradation
E7- binds to Rb and displaces E2F |
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Term
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Definition
| Epstein Barr virus. predisposes infected B cells to rearrange immunoglobulin genes and acquire t(8;14) |
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Term
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Definition
| Kaposi sarcoma herpes virus- asocciated with kaposi sarcoma and B-cell lymphoma in HIV infected patients. |
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Term
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Definition
| human T-cell leukemia virus- endemic in japan and caribbean...think of those really weird skin pictures |
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Term
| Rous sacrcoma virus causes cancer in chickens. It has a extra gene called v-src. What kind of proteins do the src genes code for and what is the difference between v-src and c-src? |
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Definition
| src proteins are tyrosine kinases. V-src has 20 times the kinase activity of c-src due to the v-src missing a c-terminal regulatory region. This makes it constitutively active. |
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Term
| What kind of protein is Ras and what do oncogenic mutations result in? |
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Definition
| Ras is a G-protein. mutations cause the loss of GTPase activity in the alpha subunit. thus it can't be turned off after activation. |
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Term
| Retroviruses contain 4 genomic regions...what are they? |
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Definition
LTR- long terminal repeat sequence; a transcription enhancer region
pol-viral reverse transcriptase
gag-internal structural proteins
env-viral particle surface glycoprotein |
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Term
| INK4 family of proteins: what do they do and how? |
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Definition
| cdk inhibitors that target cdk4 and cdk6 by disrupting association with D type cyclins. e.g. p15 and p16 |
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Term
| p53 increases the transcription for which cdk inhibitory protein? |
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Definition
| p21 cip1/waf1. this protein and other family members inhibit all cdk kinases except cdk4 and cdk6 |
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Term
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Definition
| promotes cdk activity by phosphorylating thr160. stands for cdk activating kinase |
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Definition
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