18. Jane has an inherited condition that results in high levels of LDL in her bl

Question

18. Jane has an inherited condition that results in high levels of LDL in her bloodstream (familial
hypercholerestoremia)There are several possible mutations that could lead to hypercholesterolemia.
A. Briefly explain the consequences of each of the following types of mutations.
1. The LDL receptor is missing its intracellular domain (the portion of the protein on the
interior of the cell).

2. The LDL receptor is missing its extracellular domain (the portion of the protein on the
exterior of the cell).

3. A defect in the LDL receptor prevents it from releasing the LDL particle after it has bound
to the receptor.

Explanation / Answer

. Jane has an inherited condition that results in high levels of LDL in her bloodstream (familial
hypercholerestoremia)There are several possible mutations that could lead to hypercholesterolemia.
A. Briefly explain the consequences of each of the following types of mutations.
1. The LDL receptor is missing its intracellular domain (the portion of the protein on the interior of the cell).
endocytosis of LDL receptor will be a problem


2. The LDL receptor is missing its extracellular domain (the portion of the protein on the
exterior of the cell).

recognization of apoproteins and release of LDL will be a problem

3. A defect in the LDL receptor prevents it from releasing the LDL particle after it has bound
to the receptor.

diffusion of LDL ------IN MEMBRANE SURFACE will be A problem

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