The Survival Guide for Mutations

By Stacey Li

Every person has unique deoxyribonucleic acid (DNA)- unless you’re a clone. Discovered by James Watson and Francis Crick in 1953 the double helix structure of DNA has become a widely researched topic in science (University of California Museum of Paleontology, National Science Foundation, & Howard Hughes Medical Institute, n.d.). DNA can determine anywhere from physical appearances to disease susceptibility. It is replicated countless times; however, this does not always occur smoothly. Mutations can affect anyone, anywhere in the body (Mutations and health, 2016).

Don’t worry though. Mutations are changes in the DNA sequence and despite their negative connotations, they can be beneficial- as shown in a mutation that makes a certain family resistant to a disease (Mutations and health, 2016). In fact, although we notice mainly the negative mutations, they do not influence a person’s health in most cases. The ones that do impact health, however, can cause detrimental effects. The result of certain mutations necessitates further examination in order to spread awareness and to look for preventions and possible cures in such diseases.  

To further understand mutations, here is a crash course on DNA:

DNA sequences include four different units: adenine, thymine, guanine, and cytosine. The abbreviations A, T, G, C, respectively, are often used. They are what makes up your chromosomes. Changes in a person’s DNA sequences could be the results of various types of mutations; this includes substitution, insertion, deletion, and frameshifts. Although there are many more types, these are some of the most basic. In substitution, two different units are exchanged. For example, adenine and thymine could be switched. The next mutation, insertion, occurs when units are inserted into a different sequence. Similarly, deletion take place when a unit is deleted. The last mutation, frameshift, occurs solely because of the way DNA units are read. Since they are read in groups of three, a shift in groupings can confuse the messages. (Mutations and health, 2016)

A different form of mutation is called “gene jumping.” When this occurs in the brain, genes “paste copies of themselves into other parts of the genome.” (See, copying and pasting is always a bad idea!) L1 is an important gene in a human’s genome. When this gene is “moved” to a different area, it can be either beneficial or harmful. This depends on the altered protein that was formed or the effects of the moved DNA on its surroundings. L1 is possibly related to a mutation in a specific gene that can lead to Rett syndrome, a disorder that alters brain development in girls, or other mental disorders. One study has shown that patients with Rett syndrome have many more L1 insertions in neurons. This finding suggests a connection between jumping genes and the gene that causes Rett syndrome. (Gage & Muotri, 2012)

As mutations continue to impact the lives of many, further understanding of DNA is necessary. Starting with specific genes, L1 for example, researchers in this field can improve awareness, define prevention measures, and even discover cures.

Since radiation could increase the possibility of mutations, here are some tips to avoid radiation (Mutations and health, 2016):

Ways to Avoid Radiation

  1. Step away from your electronic devices!  Yeah, right — at least try to limit time.
  2. Use sunblock/ avoid too much sun exposure.
  3. Ask your doctor about ways to shield parts of your body that are not needed to be imaged during imaging tests, such as X-rays or CT scans (Radon and cancer, 2015).
  4. Find out about the radon exposure levels in your home. They depend on the characteristics of the rock and soil in your area (Radon and cancer, 2015).

References

Gage, F. H., & Muotri, A. R. (2012, March 3). Your brain is special. Scientific American, 306(3), 26-31.

Mutations and health. (2016, February 1). National Institute of Health. Retrieved January 6, 2016, from http://ghr.nlm.nih.gov/handbook/mutationsanddisorders?show=all

Radon and cancer. (2015, September 23). American Cancer Society. Retrieved February 19, 2016, from http://www.cancer.org/cancer/cancercauses/othercarcinogens/pollution/radon

University of California Museum of Paleontology, National Science Foundation, & Howard Hughes Medical Institute. (n.d.). DNA: The molecular basis of mutations. Berkeley. Retrieved January 6, 2016, from http://evolution.berkeley.edu/evolibrary/article/%3C?+echo+%24baseURL%3B+%3F%3E%2Fmutations_02

DNA double helix [Photograph found in Big Think]. (n.d.). Retrieved from http://bigthink.com/videos/discovering-the-double-helix

 

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