Genetics Case Study
Develop a two- to three-page genetics case study paper paper that discusses genetic principles as they relate to the patient in the Chest Pain
Scenario (https://lmscontent.embanet.com/Media/MVU/NURS611/NURS611-w02-m01/) . The patient case study is meant to provide information about the patient to guide your discussion of genetics and epigenetics in the context of this patient’s multiple comorbidies. You do not need to include presentation of this patient’s specifc case study findings such as the history, physical, laboratory data, or imaging data.
In your genetics case study assignment:
- Identify genetic alterations associated with the presenng diagnosis and the patient’s underlying comorbidities of dyslipidemia and hypertension.
- Identify the effects of these genetic alterations have on the body of a patient with these diagnoses. Discuss all three diagnoses, listing clinical findings and how the genetic alteration causes the clinical findings.
- Using scientific evidence and provider-level language, discuss the education you would provide to the patient about coronary artery disease, dyslipidemia, and hypertension, and how genetic alterations in these diseases might be positively altered with environmental and lifestyle modifications.
Note that you will only use the scenario to obtain patient informaon for your discussion of the topics listed above; you will not submit anything from the case itself for this assignment. - Review the rubric your instructor will use to evaluate your work.
- Utilize at least three scholarly and current references to support your writing. Utilize current APA professional paper format (hps://maryville.instructure.com/courses/75417/modules/items/6223017) .
What to Submit
A two- to three-page Microso Word document. Please note that the title and reference pages are in addition to the page requirement.
If you copy and paste references from the course into your assignment, be sure to conrm APA formatting before submitting assignment.
After submitting your genetics case study assignment, select Submission Details to view your similarity score.
Your similarity score will appear as a percentage next to your submitted paper.
It may take up to 24 hours for your similarity score to appear.
SAMPLE ANSWER
Assignment 2.1: Genetic Case Study Analysis
Human disease is caused by a lot of factors including weight, age, family history, and race among others. Anderson and Durstine (2019) noted that family history is one of the strongest risk factors for medical problems such as diabetes, cardiovascular disease (CVD), cancer, obesity, mental illness, and autoimmune disorders. This assignment is based on a case study of a patient known as Frank. The patient complains of crushing pain in his chest. He noted that the pain started in his chest as a dull pain and moved from his left arm to his neck. The pain started after he finished having dinner. He also noted that he feels dizzy and nauseated.
Genetic Alteration Associated with NSTEMI and the Patient’s Underlying Comorbidities
The presenting diagnosis in the case is the non-sT-elevation myocardial infarction (NSTEMI). NSTEMI is an illness where there is a decreased flow of oxygen-rich blood to the heart muscle caused by a partial blockage in one of the coronary arteries (Zhang et al., 2020). One of the known genetic alterations linked to heart disease is the Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) mutation (Rogers, 2021, pg. 175). Zhang et al. (2020) noted that mutation in PCSK9 leads to low-density lipoprotein (LDL) cholesterol, also known as bad cholesterol. LDL is a risk factor for heart problems such as NSTEMI, coronary artery, and atherosclerosis. Alteration in genes such as prothrombin (F2) and Leiden (F5) may lead to the development of thrombosis, which causes the formation of blood clots that lead to the development of NSTEMI. Alteration in genes such as C-reactive protein (CRP), interleukin-6 (IL-6), and interleukin-1 (IL-1) increase one’s risk of developing atherosclerosis thereby leading to the development of NSTEMI (Zhang et al., 2020).
Another genetic problem is familial hypercholesterolemia (FH). FH is a genetic disorder characterized by high levels of LDL cholesterol in the blood because of alterations in genes such as Apolipoprotein B (APOB), Low-Density Lipoprotein Receptor (LDLR), and PCSK9 (Rogers, 2021, pg. 175). The mutations increase one’s risk of developing heart disease by making it hard for the body to clear LDL cholesterol from the blood, leading to dyslipidemia. The genetic mutation linked to hypertension is the renin-angiotensin-aldosterone system (RAAS) gene. Angiotensinogen and Angiotensin-Converting Enzyme are variations of genes that when altered might influence one’s risk of developing hypertension (Xue et al., 2022). Alterations in sympathetic nervous system genes are also linked to the development of hypertension.
Effects of the Genetic Alterations on the Body of the Patient
NSTEMI
Clinical manifestations of NSTEMI include chest pain and discomfort due to low blood flow to the section of the heart muscle and elevated cardiac biomarkers, showing myocardial injury. NSTEMI occurs due to the development of atherosclerotic plaques, which are influenced by environmental and genetic factors that narrow the coronary arteries (Zhang et al., 2020). The blood flow can be temporarily or partially blocked when a plaque ruptures, causing myocardial ischemia.
Hypertension
Clinical findings of hypertension include elevated blood pressure, which can lead to increased stress on the blood vessels and the heart and damage to organs such as the kidneys, heart, eyes, and brain. Genetic alterations of genes such as Angiotensinogen and Angiotensin-Converting Enzyme lead to hypertension. Alterations in these genes lead to increased levels of vasoconstrictive hormones, which in turn increase the level of blood pressure in the blood vessels. Also, variation in the endothelial function genes can negatively impact the production of nitric oxide, which influences vascular tone.
Dyslipidemia
Alterations in PCSK9 are known to be a risk factor for dyslipidemia. Alterations in the gene impact the body by preventing it from properly clearing LDL (Xue et al., 2022). The clinical manifestations of dyslipidemia include elevated cholesterol and premature atherosclerosis. Xue et al. (2022) noted that alterations in PCSK9, APOD, and LDLR lead to decreased clearance and uptake of LDL cholesterol from the bloodstream, which causes high levels of LDL, causing NSTEMI.
Struggling with your Online Class? We can Help
Education
CAD is a medical problem where blood vessels supplying blood to the heart muscle become blocked or narrowed by plaque, also known as fatty deposits. The disease is linked to genetics. It can be inherited. However, lifestyle choices play a big part in the development and progression of the disease. One of the healthy choices that can used to reduce the likelihood of CAD, hypertension, and hyperlipidemia is a healthy diet. Islam et al. (2021) noted that a healthy diet that is low in trans and saturated fats, sodium, or cholesterol reduces risks for CAD, hypertension, and hyperlipidemia. Healthy eating should be more fruits and vegetables and less carbohydrates, especially sugars. Regular exercise also improves heart health, reduces levels of cholesterol in the body, and manages blood pressure. Anderson and Durstine (2019) noted that one should engage in physical exercise at least five days a week. Stress management and low alcohol intake can also be used to reduce hypertension. Weight management is another activity that can be used to manage the three diseases. The patient can manage weight through regular physical activity and a healthy diet.
Conclusion
Genetic alterations are highly linked with heart problems such as myocardial infarction. The main gene that is linked to the three diseases (NSTEMI, hyperlipidemia, and hypertension) is PCSK9. Alteration in this gene can lead to poor clearance of cholesterol in the bloodstream leading to poor cholesterol in the body, which increases one’s risk for NSTEMI, hyperlipidemia, and hypertension.
References
Anderson, E., & Durstine, J. L. (2019). Physical activity, exercise, and chronic diseases: A brief review. Sports Medicine and Health Science, 1(1), 3-10. https://doi.org/10.1016/j.smhs.2019.08.006
Islam, S. U., Ahmed, M. B., Ahsan, H., & Lee, Y. S. (2021). Recent molecular mechanisms and beneficial effects of phytochemicals and plant-based whole foods in reducing LDL-C and preventing cardiovascular disease. Antioxidants, 10(5), 784. https://doi.org/10.3390/antiox10050784
Rogers, J. (2022). McCance & Huether’s Pathophysiology – E-Book (9th ed.). Elsevier Health Sciences (US). https://online.vitalsource.com/books/9780323789899
Xue, J., Chen, L., Cheng, H., Song, X., Shi, Y., Li, L., & Ge, J. (2022). The identification and validation of hub genes associated with acute myocardial infarction using weighted gene co-expression network analysis. Journal of Cardiovascular Development and Disease, 9(1), 30. https://doi.org/10.3390/jcdd9010030
Zhang, Z. Q., Ding, J. W., Wang, X. A., Luo, C. Y., Yu, B., Zheng, X. X., & Zhang, J. (2019). Abnormal circadian rhythms are associated with plaque instability in acute coronary syndrome patients. International Journal of Clinical and Experimental Pathology, 12(10), 3761. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6949736/
Jermaine Byrant
Nicole Johnson
OVER
RATING
YEARS
