Explain the basics of a disease involving a breakdown in the structure/function of a receptor and/or intracellular targets involved in a signal transduction pathway. Describe some of these diseases in the table below:

Human Anatomy & Physiology (11th Edition)
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ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
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Explain the basics of a disease involving a breakdown in the structure/function of a receptor and/or intracellular targets involved in a signal transduction pathway. Describe some of these diseases in the table below: 

Disease
Breakdown
Effects of Breakdown Leading to Disease
Familial hypercholesterolemia is caused by a
reduction or mutational defect in the LDL
receptor, which leads to inadequate hepatic
clearance of circulating LDL cholesterol
Defective particles. This leads to the formation of
or reduced atherosclerotic plaques in the arterial wall
which is responsible for early coronary heart
disease, stroke, and peripheral vascular
disease. Cholesterol also accumulates in
other areas including the skin, cornea, heart
valves, and other sites causing lesions
secondary to its deposition.
Familial
hypercholesteremia LDL
receptors
1
4
LO
Transcribed Image Text:Disease Breakdown Effects of Breakdown Leading to Disease Familial hypercholesterolemia is caused by a reduction or mutational defect in the LDL receptor, which leads to inadequate hepatic clearance of circulating LDL cholesterol Defective particles. This leads to the formation of or reduced atherosclerotic plaques in the arterial wall which is responsible for early coronary heart disease, stroke, and peripheral vascular disease. Cholesterol also accumulates in other areas including the skin, cornea, heart valves, and other sites causing lesions secondary to its deposition. Familial hypercholesteremia LDL receptors 1 4 LO
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