Disease/Mutations/Clinical Correlations

Question 1

Actinomycin D (Dactinomycin)

Answer 1

prok/euk - binds to DNA by intercalating ds and prevents elongation, inhibits RNA transcription

Question 2

Rifampicin

Answer 2

prok - inhibits RNA pol b subunit and inhibits intitation of transcription

Question 3

alpha-amanitin

Answer 3

euk - inhibits RNA pol II at low [ ] and RNA pol III at high [ ]

Question 4

Fluoroquinolones/Ciprofloxacin

Answer 4

prok - inhibits gyrase topoisomerase

Question 5

Camptothecin/etoposide

Answer 5

euk - inhibits topoisomerase

Question 6

Hutchinson-Guilford progeria

Answer 6

euk - mutations in lamins of nucleaus, also have shorted telomeres

Question 7

Hereditary non-polyposis colorectal cancer (HNPCC)

Answer 7

euk - mutations in MMR

Question 8

Xeroderma pigmentosum

Answer 8

euk - mutations in NER

Question 9

Cockayne syndrome

Answer 9

euk - mutations in TC-NER

Question 10

Ataxia telangiectasia

Answer 10

euk - mutations in HR

Question 11

Nijmegen breakage syndrome

Answer 11

euk - mutations in HR

Question 12

Bloom’s syndrome

Answer 12

euk - mutations in HR

Question 13

Sickle cell anemia

Answer 13

euk - point mutation

Question 14

Hemoglobin McKees Rocks

Answer 14

euk - nonsense mutation

Question 15

beta-thalassemia

Answer 15

euk - nonsense mutation

Question 16

Diphtheria toxin

Answer 16

euk - inhibition of EF2

Question 17

Puromycin

Answer 17

prok/euk - causes premature termination since it resembles aminoacyl-tRNA and binds A site

Question 18

Cycloheximide

Answer 18

euk - inhibits peptidyl transferase through interaction with the 60S subunit

Question 19

Streptomycin/aminoglycosides

Answer 19

prok - at high [ ] inhibit fmet binding at 30S

Question 20

Tetracyclins

Answer 20

prok - intefers with the binding of incoming aminoacyl-tRNA

Question 21

Chloramphenicol

Answer 21

prok/mitochondria - inhibits peptidyl transferase through interaction with 23S and 50S

Question 22

Erythromycin

Answer 22

prok - narrowing entrance through tunnel

Question 23

I-cell disease

Answer 23

euk lysosomal storage disease due to lack of m6-P targeting signal, lysosomal enzymes are secreted into the blood

Question 24

Swyer syndrome

Answer 24

euk mutations on NLS of the SRY protein, so SRY cannot enter the nucleus and XY individuals are phenotypically female

Question 25

Deafness dystonia syndrome

Answer 25

euk defect in DDP that is one of the protein in the TIM complex

Question 26

Zellweger's syndrome

Answer 26

euk inability to correctly target proteins to the matrix of peroxisomes

Question 27

Congenital disorders of glycosylation (CDG)

Answer 27

euk defect in N-linked proteins either because of defect in synthesis of olgiosacc in ER or modifications in golgi

Question 28

Paroxysmal nocturnal hemoglobinuria (PNH)

Answer 28

euk mutations in protein that initiates synthesis of GPI anchors, results in deficiency of GPI-linked proteins in RBC, so RBCs are destroyed

Question 29

Cystic fibrosis

Answer 29

CFTR (CF transmembrane conductance regulator) does not reach the plasma membrane because of improper folding in the ER

Question 30

Huntington's, Parkinson's and Alzheimer's diseases

Answer 30

euk impairment of proteasome activity leading to aggregations of misfolded proteins

Question 31

Osteogenesis imperfecta (OI)

Answer 31

mutations in collagen formation causes brittle bones and other abnormalities in connective tissue

Question 32

Ehlers-Danlos syndrome (EDS)

Answer 32

mutations in collagen formation cause skin fragility, hyperextensibility of skin

Question 33

Scurvy

Answer 33

mutations in collagen formation because of Vitamin C deficiency (rqd for hydroxylation intracellularly) bruising