a patient was found to have a mutation in the NPXY sorting signal within the LDL...

a patient was found to have a mutation in the NPXY sorting signal within the LDL receptor. what synptoms would this patient present?

a. build of cholesterol contains plaques with arteries
b. thick mucous accumulation in lungs
c. neurodegeneration associated with accumulation of undigested glycolipds in lysomes
d. hemochromatosis - excessive iron accumulation in the blood

Expert Solution

LDL receptors are present in the cell membranes of liver cells (hepatocytes) and other tissues throughout the body. They enter cholesterol into normal body cells. When bound to LDL receptors in hepatocytes, LDLs release their cholesterol and triglycerides. Cholesterol is stored by bile salts, oxidized and unchanged.
Mutations in this locus have been found to cause familial hypercholesterolemia(It is a disorder which causes elevated blood cholesterol levels and premature heart attacks) which is characteristic of elevated LDL cholesterol and premature CVD (Cardiovascular Diseases).
When plaques (fat reserves) close your arteries, it is called atherosclerosis(causes cardiovascular diseases). These deposits are composed of cholesterol, fatty substances, cellular waste products, calcium and fibrin.

Seeing the information mentioned above one can say that option (b), (c), (d) are incorrect.

Option (a) is the correct answer.

build of cholesterol contains plaques with arteries.

gladiator answered 2 years ago

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