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Cholesterol (in the form of LDL) is taken up into cells by receptor-mediated endocytosis. Patients suffering from severe hypercholesterolemia have a defect in cholesterol uptake, which results in high levels of cholesterol in the blood. Researchers studying cells from a patient with this disease found that they are homozygous for mutations in the LDL receptor gene. When they tested the cells from the patient, they found that LDL is not able to bind to the surface of the patient’s cells at all, so LDL is not internalized.

a. In a healthy person, which membrane compartments/organelles does LDL travel through, starting from the extracellular space?

b. In a healthy person, which membrane compartments/organelles does the LDL receptor travel through, starting from the extracellular space?

c. Which cytoskeletal elements serve as “tracks” to move the LDL-containing vesicles to the correct organelles?

d. Which two components are required to work with that cytoskeletal element to move the LDL-containing vesicles within the cell?

e. Explain why the patient’s specific mutation causes such high levels of cholesterol to be in the blood?

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Sixta Kovacek
Sixta KovacekLv2
28 Sep 2019

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