Part 1: The Life of a Genetic Mutation – The Story

Hi everyone! My name is Hayley and I’m the genetic mutation Herrick’s Syndrome or more commonly known as Sickle Cell Anemia. I live in my host Quinta who’s currently 14 years old.  Today I will be talking to you about what happened to me as a gene, what caused me to mutate, and how I affect my host Quinta.

First let’s talk about mutation in general. Mutation occurs when the hereditary material of a cell is altered. Hereditary material is made of genes and chromosomes. The two main kinds mutation are gene mutation and chromosomal mutation. Chromosomal mutation is when a whole chromosome is changed. I’ll be talking to you about gene mutation today.  Gene mutation is when there is a chemical change in a gene. The alterations can cause traits to change. Genes are made of DNA and are what determine these traits. There are three kinds of gene mutation. Substitutions is when one base is substituted for another. An example would be if the codon AGC became AGA. The next kind is insertion. This is when a base is added to the DNA sequence. Say we have the sequence UGC, with insertion another base would be added making it UGAC. The last kind  is deletion which is where a base a removed from the sequence. For example we have the sequence AGG CCT and one base is removed to make it AGG CT. Scientist are still unaware of what causes the majority of mutations even though they happen all the time. Mutagens are what we call things that can cause mutation.

Now let’s go back to the very beginning shall we? A single nucleotide in my codon was substituted. One of the bases, adenine, cytosine, guanine, thymine or uracil if it’s an RNA, was switched. The normal codon would’ve been GAG but the A was substituted for a T. Even though it was only a single nucleotide, it could sure change a lot. The codon GAG corresponds to the amino acid glutamic acid or GLU. But the codon GUG corresponds to the amino acid valine or VAL. Therefore when the mRNA delivers the faulty GUG codon to the ribosome, the ribosomes will then produce valine instead of glutamic acid.

I am a hereditary disease. This means that I am passed down from parent to child. In order for someone like Quinta to contract the disease both of her parents needed to have the sickle cell trait or in other words a sickle cell gene.  If only one of her parents had the sickle cell trait then, sadly for me but luckily for her, she would only inherit the sickle cell trait. I’ll explain the difference between the disease and trait soon.

Unlike my cousin, the sickle cell trait, I have negative effects to my host. This makes me a harmful mutation. If I wanted to be a helpful mutation I would create proteins that have new or altered functions. Those with the sickle cell trait generally don’t experience any effects and continue living a normal life. I get my name because of the way I cause the red blood cells in the body to look. Quinta has an abnormal type of hemoglobin. It is the protein that carries oxygen. The abnormal protein creates crystals in the blood cells as the cell releases oxygen throughout the tissues in the body. The crystallized hemoglobin causes the red blood cells to become twisted and rigid giving them their sickle like form. These sickle cells are not as flexible or strong and don’t carry as much oxygen as normal blood cells. This causes the life span of the cells to be much shorter. Instead of lasting for 90-120 days they will only last for about 10-20 days.

The new form of the red blood cells can cause quite a few problems. The first being their shortened life span. Since the blood cells are dying at an accelerated rate Quinta’s body cannot keep up. The sickle cells also get stuck and block the blood flow. These disruptions of the blood flow cause Quinta to have periodic crises. Crises are attacks of severe pain and fever. Another negative effect that can occur is anemia. Anemia is the condition caused by the lack of red blood cells or hemoglobin that leaves the person, in this case Quinta, pale and weary. Quinta may also suffer damage to her lungs and kidneys as well as strokes and tissue infarction (the death of tissues caused by the lack of oxygen).

Now for the best part. How Quinta and I go about our normal lives. Quinta, like I mentioned before, is 14 years old. If it was 1973 she wouldn’t be alive right now. Luckily, because there has been so many advances, her life expectancy has greatly increased. When she was a child she didn’t experience pain that wasn’t caused by the pain attacks. But when she became older she started to experience some chronic pain that will most likely carry on throughout the rest of her life. She was diagnosed  with having me at birth.

There were different kinds of treatment Quinta was offered. She and her family chose to use different medications to treat me. Antibiotics are used to prevent infections and the drug hydroxyurea can be taken to help decrease the need for blood transfusions and how often she has crises. The other option offered to Quinta was a bone marrow transplant. In this procedure the blood-forming tissues are killed with the use of certain drugs. Then the tissues are replaced with bone marrow stem cells that have been provided from a donor. These stem cells become bone marrow that create normal red blood cells instead of sickle cells. The downsides of this treatment is that sometimes there aren’t any donors available and there is the risk of becoming seriously sick or even dying.

I hope you’ve learned more about mutation and Herrick’s Syndrome or Sickle Cell disease. Hayley the gene mutation signing off!

Part 2: The making of the Mutation Story

Questions I needed to research

The first thing I did was perform a Google search using the name of my syndrome. From there I could see if there were some credible sources I could look further into. The questions I asked myself were:

• How was the mutation caused? Substitution? Insertion? Deletion?
• How did it affect the body? Did it affect the AA sequence?
• What are the symptoms of these gene?
• What sort of treatment is there for this mutation?
• What is the normal life expectancy?
• Are there any setbacks like learning disabilities?

Digital Tools

I stuck with what I knew for the beginning by briefly looking over the Wikipedia page to get a rough idea of what my syndrome was. I personally don’t like to get my information solely from there. From there I looked in the reference section and found a government website that provided me with some information. I also used the online encyclopedia Worldbook. A new digital tool that I used was video. In the past I’ve only gotten information off of videos that were given in class or  from websites and books. This time I took it upon myself to look for videos about my mutation.

Verifying and citing

On the Worldbook webpages, they provide the information needed to cite the source at the bottom of the page. For the videos and other websites I provided the URL. What I like to do in order to verify my information is to cross reference it. If I find a piece of information from one source I want to see if it’s been provided from another. This way I have more sources behind my information. I checked the usage rights on my pictures to make sure that I could include them in my presentation.

Final Thoughts

I found the idea of writing a story through the point of view of a gene mutation to be quite creative and fun. It’s a good way to keep the audience entertained. What I found time consuming was gathering and then sorting through all the information to see whether or not it was credible or useful. If I had been given more time to work on this project, I would’ve like to present this story with some more visual components such as a video or an online comic strip. I would’ve also liked to have spent more time being able to look for better pictures and possibly diagrams that could help further explain mutation.

Bibliography

MLA:

Hartl, Daniel L. “Mutation.” World Book Student. World Book, 2016. Web. 15 Jan. 2016.

APA:

Hartl, D. L. (2016). Mutation. In World Book student. Retrieved from
http://worldbookonline.com/student/article?id=ar379460

Harvard:

Hartl, DL 2016, ‘Mutation’ , World Book Student, World Book, Chicago, viewed 15 January 2016,
<http://worldbookonline.com/student/article?id=ar379460>.

MLA:

Eckman, James R. “Sickle cell anemia.” World Book Student. World Book, 2016. Web. 15 Jan. 2016.

APA:

Eckman, J. R. (2016). Sickle cell anemia. In World Book student. Retrieved from
http://worldbookonline.com/student/article?id=ar509290

Harvard:

Eckman, JR 2016, ‘Sickle cell anemia’ , World Book Student, World Book, Chicago, viewed 15 January 2016,
<http://worldbookonline.com/student/article?id=ar509290>.

https://en.wikipedia.org/wiki/Sickle-cell_disease

http://www.nhlbi.nih.gov/health/health-topics/topics/sca

https://www.dnalc.org/resources/3d/17-sickle-cell.html

http://sickle.bwh.harvard.edu/scd_inheritance.html