Receptor-mediated endocytosis is a multistep process that allows relatively large structures/molecules to enter cells. Studies of families with familial hypercholesterolemia (FH) have helped to elucidate the process of receptor-mediated endocytosis. The most common type of mutation that leads to this condition affects the LDL receptor cytoplasmic domain, usually a Tyr-to- Cys amino acid change at a single location. Explain how this specific type of mutation in this domain leads to hypercholesterolemia. Give details here, mentioning proteins and interactions affected so it is clear why such a mutation can lead to this health condition. You will need to say what happens here normally and then how this change leads to a problem. Do not just speak in generalities.

Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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Receptor-mediated endocytosis is a multistep process that allows relatively large
structures/molecules to enter cells. Studies of families with familial hypercholesterolemia (FH)
have helped to elucidate the process of receptor-mediated endocytosis. The most common type of
mutation that leads to this condition affects the LDL receptor cytoplasmic domain, usually a Tyr-to-
Cys amino acid change at a single location. Explain how this specific type of mutation in this
domain leads to hypercholesterolemia. Give details here, mentioning proteins and interactions
affected so it is clear why such a mutation can lead to this health condition. You will need to say
what happens here normally and then how this change leads to a problem. Do not just speak in
generalities.
Transcribed Image Text:Receptor-mediated endocytosis is a multistep process that allows relatively large structures/molecules to enter cells. Studies of families with familial hypercholesterolemia (FH) have helped to elucidate the process of receptor-mediated endocytosis. The most common type of mutation that leads to this condition affects the LDL receptor cytoplasmic domain, usually a Tyr-to- Cys amino acid change at a single location. Explain how this specific type of mutation in this domain leads to hypercholesterolemia. Give details here, mentioning proteins and interactions affected so it is clear why such a mutation can lead to this health condition. You will need to say what happens here normally and then how this change leads to a problem. Do not just speak in generalities.
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