Familial hypercholesterolemia (FH) is an inherited disease characterized by high blood levels of cholesterol, xanthomas (lipid-laden nodules that develop under the skin near tendons), and early-onset atherosclerosis (the formation of yellowish plaques within arteries). In the milder form of this disease, patients have half the plasma membrane low-density lipoprotein (LDL) receptors needed for cells to bind to and internalize LDL (a plasma lipoprotein particle that transports cholesterol and other lipids to tissues). These individuals have their first heart attacks in young adulthood. In the severe form of FH, in which affected individuals have no functional LDL receptors, heart attacks begin at about age 8, with death occurring a few years later. Based on what you have learned in this chapter, briefly describe the cellular processes that are defective in FH.
Familial hypercholesterolemia (FH) is an inherited disease characterized by high blood levels of cholesterol, xanthomas (lipid-laden nodules that develop under the skin near tendons), and early-onset atherosclerosis (the formation of yellowish plaques within arteries). In the milder form of this disease, patients have half the plasma membrane low-density lipoprotein (LDL) receptors needed for cells to bind to and internalize LDL (a plasma lipoprotein particle that transports cholesterol and other lipids to tissues). These individuals have their first heart attacks in young adulthood. In the severe form of FH, in which affected individuals have no functional LDL receptors, heart attacks begin at about age 8, with death occurring a few years later. Based on what you have learned in this chapter, briefly describe the cellular processes that are defective in FH.
Biochemistry
9th Edition
ISBN:9781319114671
Author:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Publisher:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Chapter1: Biochemistry: An Evolving Science
Section: Chapter Questions
Problem 1P
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Familial hypercholesterolemia (FH) is an inherited disease characterized by high blood levels
of cholesterol, xanthomas (lipid-laden nodules that develop under the skin near tendons), and
early-onset atherosclerosis (the formation of yellowish plaques within arteries). In the milder
form of this disease, patients have half the plasma membrane low-density lipoprotein (LDL)
receptors needed for cells to bind to and internalize LDL (a plasma lipoprotein particle that
transports cholesterol and other lipids to tissues). These individuals have their first heart
attacks in young adulthood. In the severe form of FH, in which affected individuals have no
functional LDL receptors, heart attacks begin at about age 8, with death occurring a few years
later. Based on what you have learned in this chapter, briefly describe the cellular processes
that are defective in FH.
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