Heart Failure CPR Preview Assignment

Assignment Preview
Genetic risks lead to heart failure.

Assignment Goals
Source Material
Student Instructions
Guiding Questions

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Assignment Goals

The objective for this CPR assignment is to integrate several different concepts addressed in your Human Physiology course to explain how a variety of different family genetic traits can lead to one single problem - heart failure (Silverthorn, p. 447-448).

You will describe human stimulus/response systems.
You will identify problems with homeostasis (NOT equilibrium, but return to steady-state conditions).
You will identify the extent and limits to our knowledge.
You will link your knowledge and connect what you learned in Physiology to the real world.

As you address the issue, you will be expected to support, verify, and justify an interpretation that shows your ability to use physiology knowledge. You should refer to the research abstracts and take a critical view that shows awareness of the boundaries of our understanding. There is no one right answer when analyzing a problem such as heart failure, but the good answers still stand out from the poor answers.

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Source Material

This problem can be addressed using ONLY the knowledge presented in the Silverthorn textbook, if you can relate that knowledge to the gene defects that have been identified in families with high risk of heart failure. This assignment provides links to primary research abstracts in case you have questions about the links between heart failure and specific genes.

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Source Material Resources:

Na,K-ATPase - The alpha1 Na,K-ATPase gene is a susceptibility hypertension gene in the Dahl salt-sensitiveHSD rat. J Clin Invest 1998 Sep 15;102(6):1102-11
URL: http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query_old?uid=9739044&form=6&db=m&Dopt=b

beta-adrenergic receptor density - Beta-adrenergic receptor density and function in left ventricular hypertrophy in young essential hypertensives. J Hum Hypertens 2000 Jan;14(1):17-21
URL: http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10673726&dopt=Abstract

tropomyosin - Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function. Biochemistry. 1999 Mar 23;38(12):3850.
URL: http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10090775&dopt=Abstract

Hearts and Hypertension - A general resource on genetic links to heart diseases that includes an on-line video.
URL: http://www.hhmi.org/grants/lectures/98lect/references.htm

Troponin T - Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants. Biochemistry. 1999 Oct 5;38(40):13296-301.
URL: http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10529204&dopt=Abstract

myosin heavy chain - Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. Am J Cardiol. 1999 Jun 17;83(12A):13H-18H.
URL: http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10750581&dopt=Abstract

voltage-gated potassium channel - Missense mutation in the pore region of HERG causes familial long QT syndrome.
URL: http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8635257&dopt=Abstract

epithelial sodium channel - Dysfunction of epithelial sodium transport: from human to mouse. Kidney Int. 2000 Apr;57(4):1313-8.
URL: http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10760060&dopt=Abstract

aldosterone - [High prevalence of undiagnosed primary hyperaldosteronism among patients with essential hypertension]. Rev Med Chil 1999 Jul;127(7):800-6.
URL: http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10668287&dopt=Abstract

actin - Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest 1999 May 15;103(10):R39-43.
URL: http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query_old?uid=10330430&form=6&db=m&Dopt=b

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Student Instructions

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Guiding Questions

Address the following points in your answer:

List those genes whose function is required for muscle function and describe the role muscle function plays in congestive heart failure (Silverthorn, p. 447-448)?

Describe the function of any of these genes that would alter responses of excitable cells such as contractile vascular and heart cells or the neurons required for most stimulus/response systems.

Determine which genes play a role in kidney function for regulation of blood volume and explain how that would alter blood pressure and the workload for the heart.

Support, verify, and justify your interpretation by including references to the abstracts or the Silverthorn text.

Recommend treatments and/or future research that you would be willing to support with your tax dollars to improve the value and quality of life for families with these defects.
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Writing Prompt

At what age will you die? What do you need to know about the traits in your family to make decisions that will lead to a long, quality life? Listed here are nine hereditary trait variants that, when defective, have been linked to a genetic risk of heart failure in some families. Is there a high risk of heart failure in your family and, if so, how should that condition be treated? The mechanism for the hereditary cause may be an important factor in deciding how to treat heart disease.
Review functions of each of these molecules. Discuss how defective protein function might lead to heart failure in each case. Your job will be easier if you group together traits with similar functional consequences.
- Na,K-ATPase
- beta-adrenergic receptor
- tropomyosin
- Troponin T
- myosin heavy chain
- voltage-gated potassium channel
- epithelial sodium channel
- aldosterone
- actin
Write in paragraph form your interpretation of how these defective traits contribute to heart failure. Support and justify each interpretation using citations from Silverthorn or the resource abstracts. Address each guiding question in your answer. Then recommend treatments and/or future research that you would be willing to support with your tax dollars to improve the value and quality of life for families with these defects.
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Dr. Nancy J. Pelaez
MaSTERS, College of Natural Sciences and Mathematics
California State University, Fullerton
Copyright © 2000. All rights reserved.
Revised: July 09, 2000.