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What do LDL receptor (LDLR) cytoplasmic domain mutations that cause familial hypercholesterolemia reveal about the receptor-mediated endocytosis...

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Biology

What do LDL receptor (LDLR) cytoplasmic domain mutations thatcause familial hypercholesterolemia reveal about thereceptor-mediated endocytosis (RME) pathway? Based on yourknowledge of the entire endocytic process of LDL, are there otherproteins in the pathway that if mutated might causehypercholesterolemia? Explain how and why a mutation in a differentprotein in the pathway could cause disease. For a person who ishomozygous for the NPXY mutation in their LDLR, can you think of away to fix this individuals uptake of cholesterol?

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3.9 Ratings (541 Votes)
Mutation in cytosolic domain of LDL receptor reveal thatclathrin coated pit formation is a crucial step in receptormediated endocytosis The mutant receptor can bind to LDL but isunable to internalize it via clathrin coated pits This mutantreceptor LDL is found all over the cell surface rather thanconcentrated in clathrin coated pits It cannot bind to    See Answer
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