Diseases

Question 1

What disease(s) involves defective helicase

Answer 1

Bloom’s and Werner’s

Question 2

What is Li-Fraumeni Syndrome

Answer 2

When a mutated p53 gene is inherited

Question 3

What mutation causes hereditary non-polyposis colon cancer

Answer 3

Mut S and MutL human homologues

Question 4

List the trinucleotide repeat disorders and the most commonly affected organ

Answer 4

Huntington’s, Fragile X, Spinobulbar muscular atrophy and myotonic muscular atrophy. The brain

Question 5

Xeroderma pigmentosum is the result of error in what repair system?

Answer 5

Excision

Question 6

Describe progeria

Answer 6

laminopathy involving point mutation of lamin gene. Causes apparent rapid aging. Lethal via atherosclerosis

Question 7

Describe restrictive dermopathy

Answer 7

Laminopathy, skin does not grow

Question 8

What disease(s) exploit membrane’s fusogenic properties

Answer 8

measles and HIV

Question 9

List the sphingolipid metabolism diseases

Answer 9

I-Cell, GM1 gangliodosis, Niemann-Pick, Gauchers, fabrys, Tay-Sachs

Question 10

Which sphingolipid metabolism disorders are treatable and how are they treated

Answer 10

Fabrys and Gaucher’s and treated by enzyme replacement therapies

Question 11

What are LSDs

Answer 11

Lysosomal storage diseases–typically the result of failed sphingolipid metabolism

Question 12

Describe walking pneumonia disease mechanism

Answer 12

Mycoplasma bacteria attach to respiratory cilia and suck out their cholesterol leaving them flaccid. No long able to sweep, phlegm builds up in lungs, bacteria take hold, infection occurs

Question 13

Give examples of receptor mediated endocytosis in disease processes

Answer 13

Both coccidia and toxoplasmosis attach to glycoproteins on host cells. Also, rabies, influenza, and famiilial hypercholesterolemia

Question 14

Describe CF

Answer 14

ABC transporters defective, Cl can’t be expelled from cell, H2O enters cell leaving outside dry, viscous mucous builds up

Question 15

What disease process involves the inappropriate acquisition of MDR transporters

Answer 15

Drug resistant cancers–they use these transporters to pump out toxic agents

Question 16

Describe and differentiate between the two diseases covered involving cholesterol transport

Answer 16

Both involve defect cholesterol transporters–in Tangiers, cholesterol cannot exit cells resulting of drop in HDL. Familial hypercholesterolemia involves cholesterol being unable to enter cells, increase in cholesterol blood levels

Question 17

Describe zelwegger syndrome

Answer 17

Involves failed protein targeting –> peroxisomes