A member asked:

How can a change in a mutant protein result in hypercholesterolemia? is that really the cause?

A doctor has provided 1 answer

LDL receptor: A properly functioning receptor for low density lipoprotein is one of the many proteins needed to maintain a normal level of cholesterol. A mutant LDL receptor may interfere with removal of LDL and result in hypercholesterolemia. This is just one example of a mutated protein causing alteration in cholesterol levels.

Answered 3/1/2013

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Hypercholesterolemia running in a family would start at what age in the kids?

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