Protein misfolding diseases

Question 1

Cystic Fibrosis

Answer 1

CFTR; Misfolding/altered HSP-70 and calnexin interactions

Question 2

Marfan syndrome

Answer 2

Fibrillin; Misfolding

Question 3

Amyotrophic lateral sclerosis

Answer 3

Superoxide dismutase; Misfolding

Question 4

Scurvy

Answer 4

Collagen; Misfolding

Question 5

Maple Syrup Urine Disease

Answer 5

alpha-ketoacid dehydrogenase complex; Misassembly/misfolding

Question 6

Cancer

Answer 6

p53; Misfolding/altered or HSP-70 interaction

Question 7

Osteogenic imperfecta

Answer 7

Type I procollagen pro-alpha; Misassembly/altered or BiP expression

Question 8

Scrapie/Creutzfeldt-Jakob/Familial insomnia

Answer 8

Prion; Aggregation

Question 9

Alzheimer’s

Answer 9

Beta-amyloid; Aggregation

Question 10

Familial amyloidosis

Answer 10

Transthyretin/lysozyme; Aggregation

Question 11

Cataracts

Answer 11

Crystallins; Aggregation

Question 12

Parkinson’s

Answer 12

alpha-Synuclein; Aggregation (Lewy bodies)

Question 13

familial hypercholesterolemia

Answer 13

LDL receptor; Improper trafficking

Question 14

alpha1-Antitrypsin deficiency

Answer 14

alpha1-antitrypsin; Improper trafficking

Question 15

Tay-Sachs

Answer 15

beta-Hexosaminidase; Improper trafficking

Question 16

Retinitis pigmentosa

Answer 16

Rhodopsin; Improper trafficking

Question 17

Leprechaunism

Answer 17

Insulin receptor; Improper trafficking