Diseases I

Question 1

ALS (Amyotrophic lateral sclerosis)

Answer 1

mutations in superoxide dismutase, causes enzyme aggregation

Question 2

Sickle cell anemia

Answer 2

SNP (E6V) in hemoglobin B gene

Question 3

Osteogenesis imperfecta

Answer 3

mutations in collagen gene (type I, most common, quantity deficient; type II, quality & quantity deficient, type III quality deficient)

Question 4

MDR-1

Answer 4

silent polymorphism (change in DNA sequence, same amino acid sequence) that alters substrate specificity via ribosome stalling

Question 5

Prion disease

Answer 5

prion protein scrapie (PrPsc) causes misfolding of PrPc, leading to aggregation

Question 6

Parkinson’s disease, Huntington’s disease, Alzheimer’s disease

Answer 6

proposed to be caused by protein misfolding and aggregation

Question 7

RETT syndrome

Answer 7

mutation in methyl-CpG binding protein 2 (MeCP2)

Question 8

Rubinstein-Taybi syndrome

Answer 8

mutation in CREB -binding protein (CBP)

Question 9

Meier-Gorlin syndrome

Answer 9

mutation in the DNA replication initiation proteins (ORC1, ORC4, ORC6, CDT1, CDC6)

Question 10

Seckel syndrome

Answer 10

mutation in ATR (initiates DNA repair pathways)

Question 11

Dyskeratosis congenital

Answer 11

mutation in telomerase characterized by dystrophic nails, patchy skin pigmentation, oral leukoplakia (white patches inside mouth)

Question 12

Bone marrow failure

Answer 12

mutation in telomerase making hematopioetic stem cells unable to proliferate

Question 13

Pulmonary fibrosis

Answer 13

mutation in telomerase causing a fatal lung disease (lung scarring and abnormal gas exchange)

Question 14

Aplastic anemia

Answer 14

mutation in telomerase causing anemia, low white blood cells, or platelets

Question 15

B-thalassemia

Answer 15

many mutations cause a premature stop codon within the hemoglobin B gene; where mutation is located determines disease severity because of non-sense mediated mRNA decay (NMD)

Question 16

Alpha-amanitin

Answer 16

poisonous mushroom - blocks elongation by RNA polymerase II

Question 17

Diphtheria

Answer 17

Diptheria toxin. The ‘A’ fragment catalyzes ADP-ribosylation of eEF2 causing its inactivation, B to internalize); blocks translocation

Question 18

Ricin

Answer 18

protein toxin that depurinate 28S rRNA at a specific A residue; affects peptide elongation

Question 19

Hereditary hyperferritinemia – cataract syndrome

Answer 19

mutation in the iron response element (IRE) prevent IRE-binding protein (IRE-BP) from repressing translational initiation allowing greater ferritin synthesis

Question 20

Vanishing White Matter

Answer 20

mutation in any of the 5 subunits of eIF2B

Question 21

Prader-Willi syndrome

Answer 21

genomic imprinting (lack of Prader-Willi gene from the father)

Question 22

Angelman syndrome

Answer 22

genomic imprinting (lack of Angelman gene from the mother)

Question 23

I-disease

Answer 23

genetic defect in adding mannose-6-phosphate to the enzymes (signal to traffick protein to lysosome)

Question 24

Zellweger syndrome

Answer 24

mutation in genes required for peroxisome targeting or funcation (signal to traffick protein to peroxisome)

Question 25

Multiple Sulfatase Deficiency (MSD)

Answer 25

defect in sulfatase-modifying factor-1 gene (SMF-1) required to modify an essential Cys in the active site of sulfatases

Question 26

Keshan disease

Answer 26

lack of selenium

Question 27

Type I diabetes

Answer 27

loss of Beta cells in pancreatic islets of Langerhans; no insulin production

Question 28

Type II diabetes

Answer 28

reduced response to insulin and reduced production of insulin

Question 29

Familial Hyperproinsulinemia

Answer 29

defective proinsulin cleavage resulting in equal amounts of insulin and partially cleaved proinsulin

Question 30

Polio virus

Answer 30

poliovirus protease 2A cleaves eIF4G; cleaved eIF4G can still do viral IRES-mediated protein production but not cap-dependent cellular protein production

Question 31

Systemic lupus erythematosus (SLE)

Answer 31

caused by antibodies against small nuclear ribonucleic proteins (snRNP, critical for intron slicing)