Week 1 Flashcards
What RBC disorder is this? Cause
This is a bite cell. Caused by oxidative damage due to a loss/decreased G6PD funtion (less NADPH)
What RBC disorder is this? Cause?
Hereditary Ovalocytosis/Elliptocytosis. mutations in ankyrin and spectrin genes
this antibiotic (2 names) inhibits transcription in prokaryotes
Rifamycin or rifampicin
What RBC disorder is this? Cause?
Hereditary Spherocytosis. Caused by mutations in ankyrin and spectrin genes
What RBC disorder is this? Cause?
Hereditary Stomatocytosis. Increased intracellular sodium.
This molecule inhibits transcription in prokaryotes and eukaryotes
Antinomycin D
Name 3 molecules that inhibit translation in eukaryotes
Ricin, diphtheria toxin, cycloheximide
What RBC disorder is this? Cause?
This is an acanthocyte. Caused by a defficiency in PK and corresponding decrease in ATP. This results in an accumulation of Na+ within the cell, and a loss of K+ and water
Name a molecule that inhibits translation in prokaryotes and eukaryotes
Puromycin
What RBC disorder is this? Describe the cells
Thalassemia. Small hypochromic cells
This molecule (found in muschrooms) inhibits transcription in eukaryotes
alpha-amanticin
What RBC disorder is this? Cause? what happens to RBCs?
Hereditary Pyropoikilocytosis. Mutation in spectrin and ankyrin genes. RBCs degrade in circulation.
Name 7 molecules that inhibit translation in prokaryotes?
Tetracycline, chloramphenicol, erythromycin, streptomycin, neomycin, kanamycin, gentamycin
What RBC disorder is this? Cause
Hemoglobin C. caused by a mis-sense mutation Glu6Lys
Type I CFTR mutant cause
lack of CFTR synthesis due to a premature stop codon
Type II CFTR mutant cause
defective protein processing (most common, DelF508 mutation)
Type III CFTR mutations
defective channel regulation/gating defect (G551D/Gly551Asp mutants)
Type IV CFTR mutation
defective chloride conductance (restricted Cl movement through the channel)
Type V CFTR mutations
reduced amount of CFTR protein produced
Type VI CFTR mutations
High CFTR protein turnover at cell surface
what drug is used to treat G551D CFTR mutants? what class is this?
Type III mutants. Kalydeco/Ivacafotr (same drug) is used. This is a potentiator that increases effectivenss of CFTR regulatory domains
what drug(s) is used to treat delF508 mutants? what type of mutatnt is this?
Type II mutants. Orkambi is used to treat which is a combination of Ivacaftor (potentiator) and Lumacaftor (improves protein movement to PM)
