Membranes And Transport

Question 1

Neimann-Pick Disease

Answer 1

Deficiency in activity of A-sMase (breaks down sphingomyelin).

SM accumulates. Enlargement of liver, spleen and Neuro damage.

Hallmark “cherry red sport” in eye

Question 2

Erythroblastosis fetalis

Answer 2

Incompatibility between blood of mother and fetus

Specifically RH factor

Risk increases in subsequent pregnancies

Question 3

Spur Cell Anemia

Answer 3

Hemolytic anemia

Elevated levels of cholesterol in RBC membrane

Decreases fluidity and makes RBC too rigid

Causes RBCs to break as they move through capillaries in spleen because they can’t flex

Question 4

Ions with high intracellular concentrations

Answer 4

Potassium
Magnesium
Inorganic phosphate
Protein

Question 5

Ions with high extracellular concentrations

Answer 5

Sodium
Chlorine
Calcium
Bicarbonate

Question 6

Tetrodotoxin

Answer 6

Puffer fish toxin that blocks the sodium ion gradient

Question 7

SLGT1

Answer 7

Secondary Active Transport protein that utilizes the movement of NA down its gradient to pump glucose against its gradient

Question 8

NCX

Answer 8

NA -CA exchanger

Antiports 3 NA for every 1 CA

NA down its gradient
CA up its gradient

Question 9

Cystic Fibrosis

Answer 9

Autosomal recessive disorder

Caused by CFTR (transport protein) gene

Causes build up of CL inside epithelial cells

This brings NA into the cell
Water follows NA causing thicker mucous and leaves airways susceptible to bacterial infections.

Question 10

Cystinuria

Answer 10

Autosomal recessive disorder

Defect transporter caused for uptake of dimeric cystine and other a.a. (Arg, lays, orithine).

Results in Cystine crystals or stones in the kidney

Question 11

Hartnup Disease

Answer 11

Defective in transporter for non-polar/neutral amino acids (tryp, ala, valine, thre, leu,)

Infants have failure to thrive