close
This essay has been submitted by a student. This is not an example of the work written by professional essay writers.

Using Genetic Mutations to Cure Heart Disease

downloadDownload printPrint

Pssst… we can write an original essay just for you.

Any subject. Any type of essay. We’ll even meet a 3-hour deadline.

Get your price

121 writers online

blank-ico
Download PDF

Researchers from Stanford University School of Medicine and the Palo Alto Veteran Affairs Health Care System have established a section of genetic mutations which govern cholesterol levels in the body and may also guide the development and use of cardiovascular and diabetes drugs. This data was obtained from the DNA composition of about 300, 000 veterans.

The scientists were able to isolate about three mutations which cause disruption in how the respective genes function. Despite how bad it sounds, this isolation was actually beneficial to the veterans who took part in this research. They exhibited improvement in their blood’s cholesterol profiles and showed significantly reduced risks of experiencing heart disease, diabetes, or even abdominal aortic aneurysm. This was dependent on the specific gene mutation conducted.

Genetically Engineered Medication

Tim Assimes, MD, Ph. D. , an associate professor of cardiovascular medicine led the research. He pointed out that the idea of the research was to use genetic data which has been linked to electronic health records and obtained from a significantly large number of individuals in order to identify genetic variants which then improved lipid profiles and provided protection against cardiovascular diseases. Thus they were able to engineer targeted drugs for improvement.

Three main genes were pinpointed by the study- PDE3B, PCSK9, and ANGPTL4. One day, each of these could be targeted to treat either heart disease, abdominal aortic aneurysm or diabetes, in that order. The most intriguing mutation was however noted in PDE3B. Assimes took note of this due to the presence of a drug named cilostazol. This drug mimics the mutation in that gene which is beneficial hence putting the drug in a very strong position for use in the treatment of heart disease. The lead authorship of the study was shared with Derek Klarin, MD, who is a clinical fellow in surgery at Harvard, together with Scott Damrauer, MD, an assistant professor of surgery at the University of Pennsylvania and the Corporal Michael Crescenz VA Medical Center found in Philadelphia.

The Million Veteran Program

Klarin, Damrauer, and Assimes used the power of numbers to identify the molecular factors which hold an influence on the levels of cholesterol in the blood. They also used the national research initiative established at the Veterans Health Administration, named Million Veteran Program, whose aim is to discover the genetic determinants which result in health and disease among United States Veterans, to pool genetic information.

This was done through the use of cholesterol readouts from 297, 626 candidates. From this, they tried to find variants which had a role in cholesterol levels. The study was then able to underline 188 previously identified cholesterol genetic markers and was able to identify 118 previously undiscovered markers.

The researchers then decided to zero in on a narrow silver of rare genetic irregularities for further analysis. This was conducted through the use of a technique known as PheWAS, phenome-wide screen. It was already established that these gene mutations have an effect on cholesterol. However, their intention was to further establish whether these mutations could also affect the risk of development of other diseases. This technique is used to glean information on risk of disease from vast databases of genetic information which is linked to electronic health records.

The scientists noted that each of the mutations had a favorable sway on the veterans’ cholesterol levels. However, the difference was in how it had an effect on their exposure to risk from other diseases. The PDE3B mutation resulted in increased protection against heart disease. The PCSK9 mutation both decreased the risk of heart disease as had been previously established, but also the risk of abdominal aortic aneurysm. The mutation of ANGPTL4 led to a dampening of the risk for Type 2 diabetes.

Loss-of-Function Variants

Each of these mutations works as ‘loss-of-function’ variants. This means they are used to either substantially reduce or completely halt the function of the gene. Thus, this establishes a good case for the development of drugs which mimic the functioning of these mutations. For instance, if the risk of heart disease is significantly reduced by having a faulty PDE3B gene, it becomes a promising pharmaceutical inspiration. The researchers in this study associated the PDE3B mutation with higher HDLs, lower triglycerides and a 20 percent less risk of heart disease.

Despite the efforts made by this research to identify new targets of curbing heart disease, the researchers advised caution against prescribing drugs simply for this purpose. The genetics simply suggest a reduction of triglycerides to reduce the risk of heart disease. However, this should be established after a randomized clinical trial, looking specifically at outcomes of heart disease.

The researchers pointed to how previous information has turned out to be misleading. Despite how good cholesterol profiles may appear, the main objective of the drug should be to bring out the intended outcome, which in this case is a heart attack. However, they hope that this will not be the case with cilostazol.

Remember: This is just a sample from a fellow student.

Your time is important. Let us write you an essay from scratch

experts 450+ experts on 30 subjects ready to help you just now

delivery Starting from 3 hours delivery

Find Free Essays

We provide you with original essay samples, perfect formatting and styling

Cite this Essay

To export a reference to this article please select a referencing style below:

Using Genetic Mutations to Cure Heart Disease. (2020, July 14). GradesFixer. Retrieved October 22, 2021, from https://gradesfixer.com/free-essay-examples/using-genetic-mutations-to-cure-heart-disease/
“Using Genetic Mutations to Cure Heart Disease.” GradesFixer, 14 Jul. 2020, gradesfixer.com/free-essay-examples/using-genetic-mutations-to-cure-heart-disease/
Using Genetic Mutations to Cure Heart Disease. [online]. Available at: <https://gradesfixer.com/free-essay-examples/using-genetic-mutations-to-cure-heart-disease/> [Accessed 22 Oct. 2021].
Using Genetic Mutations to Cure Heart Disease [Internet]. GradesFixer. 2020 Jul 14 [cited 2021 Oct 22]. Available from: https://gradesfixer.com/free-essay-examples/using-genetic-mutations-to-cure-heart-disease/
copy to clipboard
close

Sorry, copying is not allowed on our website. If you’d like this or any other sample, we’ll happily email it to you.

    By clicking “Send”, you agree to our Terms of service and Privacy statement. We will occasionally send you account related emails.

    close

    Attention! This essay is not unique. You can get a 100% Plagiarism-FREE one in 30 sec

    Receive a 100% plagiarism-free essay on your email just for $4.99
    get unique paper
    *Public papers are open and may contain not unique content
    download public sample
    close

    Sorry, we could not paraphrase this essay. Our professional writers can rewrite it and get you a unique paper.

    close

    Thanks!

    Please check your inbox.

    Want us to write one just for you? We can custom edit this essay into an original, 100% plagiarism free essay.

    thanks-icon Order now
    boy

    Hi there!

    Are you interested in getting a customized paper?

    Check it out!
    Having trouble finding the perfect essay? We’ve got you covered. Hire a writer
    exit-popup-close

    Haven't found the right essay?

    Get an expert to write you the one you need!

    exit-popup-print

    Professional writers and researchers

    exit-popup-quotes

    Sources and citation are provided

    exit-popup-clock

    3 hour delivery

    exit-popup-persone