Holy Final Questions

Question 1

Which of the following mutations could lead to INCREASED ameloid-beta (Aβ) formation and an increased risk of Alzheimer disease?

a) Loss-of-function mutations in beta- or gamma-secretase.
b) Increasing the amount of alpha-secretase produced.
c) Increasing the amount of APP (ameloid precursor protein) produced.
d) Stabilizing microtubules with Tau protein.
e) Destabilizing microtubules with Tau protein.

Answer 1

c) Increasing the amount of APP (ameloid precursor protein) produced.

Question 2

Mutations of the Cystic Fibrosis Transmembrane conductance Regulator gene (the CFTR gene) are divided into five classes. Which of the following would NOT be expected to lead to cyctic fibrosis?

a) Mutations that block the expression of CFTR.
b) Mutations that interfere with the delivery of CFTR to the plasma membrane.
c) Mutations that render membrane-associated CFTR defective
d) Mutations that produce hyperactive CFTR
e) Splicing mutations that result in a reduced production of CFTR

Answer 2

d) Mutations that produce hyperactive CFTR

Question 3

There are multiple different mutations in the LDLR (low density lipoprotein receptor) gene that contribute to the development of Familial Hypercholesterolemia (FH). Which of the following effects of a mutated LDLR could contribute to the development of FH?

a) Inability of LDLR to bind the ApoB-100 of LDL
b) Inability of the LDLR-LDL complex to be internalized
c) Lack of insertion of the LDLR receptor into the plasma membrane
d) Both A and B
e) A, B, and C

Answer 3

e) A, B, and C

Question 4

Duchenne muscular dystrophy is caused by a mutation in the gene on the X chromosome which leads to eventual muscle degeneration and death.

a) Dystrophin
b) Desmoglein
c) Cadherin
d) Keratin
e) Plectin

Answer 4

a) Dystrophin

Question 5

Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations of genes that encode keratin 5 or 14. Blister formation in EBS normally occurs ___________.

a) at hemidesmosomes
b) at the junction of dermis and epidermis
c) within the epithelium
d) in the underlying dermal connective tissue
e) in multiple locations in the epidermis and dermis

Answer 5

c) within the epithelium

Question 6

Cyclin D is overexpressed in a number of different types of cancers. Overexpression of cyclin D would be expected to deregulate cell division primarily by:

a) Driving cells from G1 into G0 by activating E2F.
b) Driving cells from G0 into G1 by inactivating pRb.
c) Driving cells through S phase by activating origins of replication.
d) Driving cells into M-phase by activating cdc25.
e) Driving cells into anaphase by activating APC (anaphase promoting complex).

Answer 6

b) Driving cells from G0 into G1 by inactivating pRb.

Question 7

Which of the following would NOT be expected to be a way stem cell therapy could benefit patients with multiple sclerosis:

a) Production of cells that could repair or replace damaged myelin sheaths.
b) Production of cells or cytokines that could help dampen autoimmune processes.
c) Production of cytokines or other signaling molecules that promote glial cell survival.
d) Production of cytokines or other signaling molecules that promote glial cell apoptosis.
e) Production of cytokines or other signaling molecules that promote apoptosis of auto-reactive antibody-producing cells.

Answer 7

d) Production of cytokines or other signaling molecules that promote glial cell apoptosis.