5. Patients suffering from Familial Hypercholesterolemia (FH) can carry a mutation in one of several genes. Two of these genes are ApoB and PCSK9. a. Diagram the normal cholesterol sensing pathway for a healthy person. This should be focused on the molecules that handle cholesterol and that regulate cholesterol production, NOT on patient symptoms. b. On your diagram indicate where a mutation in ApoB disrupts cholesterol sensing. Then write a paragraph or two explaining how cholesterol sensing is specifically disrupted in patients with an Apoß mutation. c. On your diagram indicate where a mutation in PCSK9 disrupts cholesterol sensing. Then write a paragraph or two explaining how cholesterol sensing is specifically disrupted in patients with PCSK9 mutation.

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
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5. Patients suffering from Familial Hypercholesterolemia (FH) can carry a mutation in one of
several genes. Two of these genes are ApoB and PCSK9.
a. Diagram the normal cholesterol sensing pathway for a healthy person. This should be
focused on the molecules that handle cholesterol and that regulate cholesterol
production, NOT on patient symptoms.
b. On your diagram indicate where a mutation in Apoß disrupts cholesterol sensing. Then
write a paragraph or two explaining how cholesterol sensing is specifically disrupted in
patients with an ApoB mutation.
c. On your diagram indicate where a mutation in PCSK9 disrupts cholesterol sensing. Then
write a paragraph or two explaining how cholesterol sensing is specifically disrupted in
patients with PCSK9 mutation.
Transcribed Image Text:5. Patients suffering from Familial Hypercholesterolemia (FH) can carry a mutation in one of several genes. Two of these genes are ApoB and PCSK9. a. Diagram the normal cholesterol sensing pathway for a healthy person. This should be focused on the molecules that handle cholesterol and that regulate cholesterol production, NOT on patient symptoms. b. On your diagram indicate where a mutation in Apoß disrupts cholesterol sensing. Then write a paragraph or two explaining how cholesterol sensing is specifically disrupted in patients with an ApoB mutation. c. On your diagram indicate where a mutation in PCSK9 disrupts cholesterol sensing. Then write a paragraph or two explaining how cholesterol sensing is specifically disrupted in patients with PCSK9 mutation.
4. Alcohol consumption impacts metabolic pathways in multiple ways. A study was performed to
see how alcohol impacted exercise metabolism. Participants were tested before ingesting a
beverage, after ingesting a beverage (orange juice alone or orange juice containing vodka-
enough to give a blood alcohol content of approximately 0.04%), when exercising at a
moderate rate (S4mM) and when exercising at a higher than moderate rate ( 15% above
S4mM). Blood lactic acid and triglyceride levels were measured for both groups and the results
are shown below. Not shown are blood glucose levels, which were about the same for both
groups. Using your knowledge of metabolism (and especially the case study about alcoholism)
explain the effects of alcohol on metabolism that might lead to these results. Note that the
participants in this study were not alcoholics and that only one alcoholic beverage was
consumed.
Blood lactate concentration (mM) >
a
Non-alcohol
Alcohol
Before drink Before
consumption exercise
S4mM
15% above
S4mM
A
Non-alcohol
Before drink
Before
consumption exercise
S4M
15% above
S4MM
Transcribed Image Text:4. Alcohol consumption impacts metabolic pathways in multiple ways. A study was performed to see how alcohol impacted exercise metabolism. Participants were tested before ingesting a beverage, after ingesting a beverage (orange juice alone or orange juice containing vodka- enough to give a blood alcohol content of approximately 0.04%), when exercising at a moderate rate (S4mM) and when exercising at a higher than moderate rate ( 15% above S4mM). Blood lactic acid and triglyceride levels were measured for both groups and the results are shown below. Not shown are blood glucose levels, which were about the same for both groups. Using your knowledge of metabolism (and especially the case study about alcoholism) explain the effects of alcohol on metabolism that might lead to these results. Note that the participants in this study were not alcoholics and that only one alcoholic beverage was consumed. Blood lactate concentration (mM) > a Non-alcohol Alcohol Before drink Before consumption exercise S4mM 15% above S4mM A Non-alcohol Before drink Before consumption exercise S4M 15% above S4MM
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