deck_2933232(1) Flashcards
What disease does AZT treat and what is its method of action?
HIV, inhibits reverse transcriptase
What disease does acyclovir treat and what is its method of action?
Herpes, reverse transcriptase inhibition
quinolone
bacterial infection, inhibits DNA gyrase and inhibits replication of DNA
What is the cause of dysteratosis congenita?
it is a telomerase deficiency syndrome
What is the cause of hereditary non-polyposis colorectal cancer(HNPCC)?
Mutations in MMR genes
What is the cause of Hemoglobin Wayne syndrome?
deletion of U(frameshift mutation) resulting sense mutation (elimination of STOP codon) and polypeptide elongation.
Hemoglobin Constant Spring:
Sense mutation in hemoglobin
When is mTOR activated and what is its role?
via signal transduction cascades involved in drugs and stress; it phosphorylates eIF4E-BP to initiate translation
What do micins, cyclins and mycins have in common?
They are antibiotics that target the ribosome.
What is the cause of Thalassemias, in general?
involve disregulation of hemoglobin expression, resulting in lower levels of hemoglobin production in RBCs
Hemophilia B-Leyden:
mutation that revents TFs from binding and initiating transcription of factor IX gene, lower levels or absent factor IX prevents blood clotting
Fragile X Syndrome:
form of autism, results from CGG repeat expansion in 5’UTR of FMR1 gene, region is methylated and prevents initiation of transcription.
What 3 conditions are generally caused by defects in activators and repressors?
Msx2/Craniosynostosis; AIS (Androgen receptor DNA binding domain); Waardenburg Syndrome Type II (TFs of pigmentation and auditory development)
How does aspirin inhibit production of inflammatory cytokines?
Inhibits IKB phosphorylation and prevents NF-kB unteathering and nuclear entry.
Why does a congenital loss of APC increase the likelihood of developing colon cancer?
APC phosphorylates B-catenin and signals its degradation. B-catenin is a TF to induce cell proliferation.
