Conditions Q2

Question 1

Toxin that causes DNA damages such as adduct formation, AF-guanine conjugation, oxidative DNA damage, or DNA strand breakage

Answer 1

Aflatoxin B1

Question 2

Caused by MSH2 gene mutations due to a problem with the mismatch repair system.

Answer 2

Colonic cancer (Lynch syndrome I)

Question 3

Toxin that binds and inhibits RNA pol II. Can cause cytolysis of hepatocytes in the liver.
Key characteristics = delay in symptoms, and false sense of remission.

Answer 3

Alpha amanitin toxin

Question 4

Caused by homozygous mutations in the splice junction sequences at intron-exon boundaries. Results in little to none hemoglobin beta chain produced. SNP

Answer 4

Beta thalassemia

Question 5

Toxin that catalyzes the transfer of NAD+ to a residue in eukaryotic elongation factor (eEF-2), inactivating it.
Causes upper respiratory tract infection.

Answer 5

Diphtheria

Question 6

Toxin that is a N-glycosidic hydrolase; cleaves the N-glycosidic bonds of rRNA 60S subunit, inactivating the ribosome and inhibiting translation elongation.

Answer 6

Ricin toxin

Question 7

Caused by a mutation/SNP where it lacks a phenylalanine in the 1st nt binding domain, causing a defect in folding which prevents forward transport to the Golgi.

Answer 7

Cystic fibrosis

Question 8

Disease caused by a defective GlcNAc phosphotransferase (Golgi enzyme). Enzyme fails to transfer phosphate to mannose residues, resulting in no hydrolases being targeted for lysosomes and thus an accumulation of substrates.

Answer 8

Inclusion-cell (I-cell) disease

Question 9

SNP of the 6th position of beta globin chain, where it is changed from a hydrophilic Glu to hydrophobic Val, causing protein misfolding.

Answer 9

Sickle cell anemia

Question 10

Caused by a defective production of product due to protein misfolding, causing decreased activity in the blood and lung, and deposition of excessive abnormal proteins in liver and other tissue cells.

Answer 10

A1-antitrypsin (A1AT) deficiency

Question 11

Lynch syndrome I is due to a problem with this DNA repair system

Answer 11

Mismatch repair system

Question 12

Xeroderma pigmentosum is due to a problem with this DNA repair system

Answer 12

Nucleotide excision repair

Question 13

Alpha amanitin toxin inhibits this enzyme

Answer 13

RNA pol II

Question 14

Beta thalassemia is due to

Answer 14

Mutations in the splice junction

Question 15

A subunit of the diphtheria toxin inactivates this protein

Answer 15

Elongation factor 2 (eEF-2)

Question 16

Ricin A is what kind of enzyme

Answer 16

N-glycoside hydrolase

Question 17

Ricin toxin affects what protein

Answer 17

rRNA of 60S subunit

Question 18

The SNP involved in cystic fibrosis has this effect

Answer 18

Defect in folding; inhibiting forward transfer to the Golgi

Question 19

This enzyme is defective in I-cell disease

Answer 19

GlcNAc phosphotransferase (a Golgi enzyme)

Question 20

The defective enzyme in I-cell disease fails to create what

Answer 20

mannose-6-P

Question 21

The SNP of sickle cell anemia causes what

Answer 21

Protein misfolding due to change in hemoglobin beta chain from hydrophilic Glu to hydrophobic Val

Question 22

A1AT deficiency is due to what

Answer 22

Protein misfolding