The Great Unknown: Genetics & Schizophrenia

By Eryn Hasty

Schizophrenia is a mental disorder that causes a person affected by it to have a difficult time determining a difference in reality from delusions. Sufferers of schizophrenia have numerous mental struggles including delusions, hallucinations, disorganized thinking and speech, abnormal motor behaviors, and lack of proper self-care or emotion (3). Schizophrenia is not very prevalent in the human population, with only about a 1% of the world population diagnosed in the world and 1.2% of the United States population diagnosed (5). There have been numerous studies conducted regarding Schizophrenia, and it’s genetic components, but the amount of SNPs that have been believed to be associated with the mental disorder is through the roof. More recent studies have linked variations in approximately 20,000 different SNPs that influence the development of Schizophrenia (6). Other genetically related diseases typically do not have such a broad SNP range.

A recent study has determined that the SNPs rs13194504 and rs210133 have an impact on the development of schizophrenia. More specifically, the signal found between these two SNPs is what could be the culprit. The C4A and C4B alleles found in this region can form different structures among different humans creating varying amounts of C4A expression in a person’s genome. Researchers determined that a higher risk of Schizophrenia is related to a greater expression of this C4A allele, and a maximum relative risk documented at this time is 1.27. The reason is because C4A expression deals with synaptic pruning in the brain (6). Synaptic pruning is the natural removal of synapses, structures that allow the transmission of neural signals, from the brain. Pruning of the brain typically begins during early childhood and lasts into late teens or early adulthood (1). With excessive pruning, those with schizophrenia have less synapses in their brains compared to those without schizophrenia. With schizophrenia being a neurological disorder, the reduction in neural connections makes sense as to why those diagnosed with schizophrenia have such abnormal and delusional mental processes. Another factor that makes sense, the timeline of typical schizophrenia diagnoses occurring around adolescences, which would be about the same time the excessive synaptic pruning becomes noticeable.

With so many factors that influence Schizophrenia, is it really worth it to get genetically tested for Schizophrenia? In my opinion, no. The reason is that there is not a specific gene, or even 100 specific genes, that are widely recognized as the contributor to Schizophrenia. As stated above, there are over 20,000 SNPs that have variations believed to contribute to development of schizophrenia. Now, if someone were to insist they be tested I would suggest a few methods based on how much information they are looking for. If they want to know if they have even the tiniest variation in any of the SNPs associated with Schizophrenia, then I would have to tell them they need a whole genome sequence done. As of 2014, this will cost approximately $1325. With this done then the person has access to all of their SNPs, including all 20,000 that have previously been correlated to Schizophrenia development, but this will most likely be of little value to the average person. My best recommendation for those who do not want to an entire genome sequence done would be to have specific testing done on the most prevalent genes such as the structure of the C4A allele mentioned above. The Human Exome consortium has developed and is still improving a schizophrenia-oriented SNP chips based on genomes of those previously diagnosed with schizophrenia. These chips test a handful of SNPs commonly linked to Schizophrenia. A SNP chip typically costs around $300, which is much more reasonable. Again, genetic testing may not share a lot of information as the cause of this mental disorder has so much variation, so most testing is not reliable when it comes to determining the schizophrenia trait.

Scientifically, taking genetic tests to try and determine this are not very reliable and useful. For example, just because someone has more or less C4A alleles than someone else does not necessarily mean that they will have significant synaptic pruning to cause neurological problems. The Indiana University School of Medicine wrote an article regarding their new test that may predict risks of schizophrenia. The test measures your C4A allele and the synapses in a persons brain and uses it to determine a possibility of schizophrenia, but even the scientists studying stated, “…[the test] doesn’t determine your destiny. It just means that your neuronal connectivity is different, which could make you more creative, or more prone to illness.” (4). This statement is the pure definition of genetic test results: unknown. Just because someone has more or less synapses in their brain that does not necessarily mean it is going to be a negative effect. Everyone has brain variation, and only 1% of the population actually has schizophrenia. This test may cause unnecessary stress in a person’s life if they are found to have a certain allele that may cause problems, or the have a few less synapses than the person next to them. On the other hand, Schizophrenia is so mysterious genetically that just because they appear to have a “clean genetic health” a person could still develop a disease such as Schizophrenia.

Emotionally, genetic testing, especially for something as serious as schizophrenia, is most likely just going to cause unnecessary stress in someone’s life should they test positive. The Genetics Home Reference explains that most risks that do come from genetic testing are related to emotional, social, and financial outcomes (9). A major issue that is often not thought about is how genetic testing affects other members of the family. If a parent of multiple children has schizophrenia and one child wants to be tested while another does not this could cause issues after results are received. If the results come back with bad news, this could cause tension and stress in the life of the sibling who did not want to be tested. They know their sibling has higher risks, therefore they might as well (9). There are also ethical concerns regarding the publication of research and the right to personal health privacy through genetic testing. There are currently no “safeguards” on sharing data from patients (7). Also, if one family member is willing to share genetic information while another is not, who wins the battle? This major issue arises more frequently than not, and there are numerous debates on the importance of sharing genetic data while also protecting a patient and his/her family (7).

With that being said, family history is a major factor that determines a person’s decision to get genetically tested for certain diseases. The reason I chose to research Schizophrenia is because my great grandmother suffered from psychosis and I believe was eventually diagnosed with Schizophrenia. Growing up I did not know this about her and did not find out until years after her passing. This sparked my interest in the disease as if genetically linked I could carry the gene. According to Schizophrenia.com, the base risk for this gene is 1%, but with one diagnosed parent, the offspring has a 10% chance of inheriting the disease. As someone who has schizophrenia in the family, I still feel as though 10% is fairly low, and since it has not been seen in generations since I feel the need to get tested is not necessary. I also feel this because schizophrenia is so difficult to read genetically. If this were another disease that is much easier to determine based on genetics, then it might be a different story. I would recommend to those who believe they are at risk to diagnose and treat as early as possible. Seeking psychiatric services will allow for an early diagnosis which allows for an early treatment. Medications and therapy allow those who suffer from schizophrenia to manage their symptoms and live close to normal lives (3).

Should a person choose to get tested, they must prepare for their results, and remember to take both a positive and a negative with a grain of salt, as results could still be inaccurate. If tested positive, or more likely to develop, a person should consult with their doctor regarding medications, treatments, stress management techniques, etc. so they are prepared and ready to battle schizophrenic effects should they arise. A few environmental factors should be taken into consideration such as decreasing use of hallucinogenic drugs such as cannabis, as well as refraining from stressful activities. Other than that, it is recommended to go on living life as usual because as said before, genetic testing for this disease is unreliable.

All in all, Schizophrenia is one of the trickiest genetic diseases to study and test. It has so many different genetic and environmental factors that makes the process of determining genetic likelihood and even diagnoses difficult. Hopefully, in years to come we can find a more definite genetic test or cause of this mental disorder, so there are less questions. For now, our society will have to continue researching and working towards finding clearer answers while understanding the ineffectiveness and unreliability that comes with genetic testing for Schizophrenia.

Sources

(1) Cafasso, J. (2018, January 3). Healthline: What Is Synaptic Pruning? Retrieved from https://www.healthline.com/health/synaptic-pruning.

(2) Hickman, R. J. (2019, August 6). An Overview of Schizophrenia. Retrieved from https://www.verywellmind.com/schizophrenia-what-you-need-to-know-4156588.

(3) Mayo Clinic. (2018, April 10). Schizophrenia. Retrieved from https://www.mayoclinic.org/diseases-conditions/schizophrenia/symptoms-causes/syc-20354443.

(4) Rattue, G. (2012, May 19). Genetic Test May Predict Risk Of Schizophrenia. Retrieved from https://www.medicalnewstoday.com/articles/245591.php#2.

(5) Recovery Brands, LLC. (2019). Schizophrenia Symptoms, Patterns and Statistics and Patterns. Retrieved from https://www.mentalhelp.net/schizophrenia/statistics/.

(6) SNPedia. (2017, October 20). Schizophrenia. Retrieved from https://www.snpedia.com/index.php/Schizophrenia.

(7) Takashima, K., Maru, Y., Mori, S., Mano, H., Noda, T., & Muto, K. (2018, June 18). Ethical concerns on sharing genomic data including patients’ family members. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006763/.

(8) The Infographics Show. (2019, March 24). Why Do People With Schizophrenia See Things (Schizophrenia Explained)? Retrieved from https://www.youtube.com/watch?v=MN3BpNT8xqc.

(9) What are the risks and limitations of genetic testing? – Genetics Home Reference – NIH. (2019, November 26). Retrieved from https://ghr.nlm.nih.gov/primer/testing/riskslimitations.

Clark Central High School Outreach Reflection

By Eryn Hasty

On Friday, August 27, 2019 I went to Clarke Central High School to work with Mr. Gonzalez’s AP Environmental class. A few weeks prior, the CCHS students collected soil samples and had them sent to UGA for my biology class to plate samples of and test for bacteria in the soil. After plating different soil dilutions on three types of plates that contained varying amounts of antibiotics we counted the number of colony forming units for the plates. With this data we were able to analyze how bacteria in soil samples from different areas have different antibiotic resistance characteristics.

Prior the students and I did research about antibiotic resistance so we would have a general understanding for the concept. The reason we needed to do this was so that we understood what we were testing for with the varying amounts of antibiotics on the plates. I may use this similar method in the future if I am running any kind of experiment. The research I did helped me understand any background facts I may need to know as well as help me form my hypothesis based on this background knowledge.

I first explained how my class performed the experiment of plating the soil in the lab. I did this so they knew how the soil can be plated and bacteria can be grown. If the did not know this they would not be able to explain their findings as effectively, and they would not be able to replicate the experiment in the future. I also explained that we were looking for the number of colony forming units (CFU’s) that are on the plates and what a CFU is. After this I let them count the CFU’s on the different plates. I then explained how to actually run the calculations and enter the data into the PARE site before letting them complete it. I gained my information for the topic through readings, instructions, and completing the same tasks on my own a few days prior. Presenting the topics helped me understand the data as well, especially because I learn best by teaching others.

I tried to make the project intellectually stimulating by letting them do everything. I did not count or perform calculations, just explained. I found the students were more engaged as they completed it on their own. I also made sure to keep the information in terms they would understand so it would be relevant. I could tell each student was very smart, but also, they are only freshman in high school. I had to be sure they were following along and were not afraid to ask questions if they were confused. Finally, I tried to be creative by asking them questions and have them try to figure out the answer on their own before telling them the correct answer. This way I was not just reciting information to them in a boring way.

Through this project I learned I really enjoy teaching. I have always had leadership qualities, but this is one of the first times I have been able to take a major role as a teacher. I also realized the students were a lot more interested than expected. I was worried I would go into this project and the students would not care what was going, but they surprised me and were very interactive!

I went in with the mindset I would feel out how confident they were in taking charge on the project. I could tell which students were more outgoing compared to those who were very shy. I focused more on interacting with the more shy students to ensure they were participating, and the more I asked them questions the more into the group project they became. I realized this was an effective method that helped me reach the entire audience, so I will most likely do this in the future too.

The entire project as a whole went well, especially with the part of the project where I instructed the students on how to analyze the data. Next time I would practice a little before how I would lead them just for timing purposes because we were a little crunched for time.

By teaching the content I had to know it very well in case the students had questions. This helped me prepare by studying the information in a detailed manner, and they even asked some questions I did not even know I had! It helped me expand my knowledge with them. I can definitely use this in the future because I am pursing a career in nursing so my information delivery is very important. The project helped familiarize me with communicating effectively with those I do not know. I feel like everything I wanted to teach the students came across how I planned. There were a few times I had to clarify, but overall I was very effective.

Overall, the project was very effective and interesting to me. It helped numerous groups of people (high school and college aged) residents in the area become more aware of a serious situation we face right here in Athens, Georgia. I really enjoyed the project and hope to do something similar again in the future!

Climate Negotiation Reflective Blog Post

By Eryn Hasty

When I played my role in the policy exercise, I felt shocked. I could not believe how much effort it was going to take from every single country in order to lower us to lower the global temperature increase by 2100.

As the rounds progressed my feelings grew stronger, and honestly more frustrated. I was part of India, who initially was one of the lowest contributing country to CO₂ emissions. On the other hand, most of our country is in poverty so we needed money if we wanted to work towards lowering our emissions rates even more. I became frustrated because there were many countries who had much higher rate, but also many more resources who became very stubborn as the process developed. The other nations needed them to lower their rates, but they did not give in much. It took so much negotiating.

My group evolved our negotiations and ideas across the debate from asking for less money for India. This change was prompted because we realized that there were much needier countries who were also asking for something, and we needed to team up with them in order to get money from larger developed countries as well as have them lower their emission rates. We teamed up with the other developing countries and split the money contributed by the other countries in order to work towards lowering our emissions more.

Emissions can absolutely be cut, but I do not know how effectively and efficiently they can e cut in order to get out temperature increase well under the 2 degrees Celsius we were aiming for. Negotiations become very tricky, and for us to lower by that much all of the countries would need to be a lot more generous with their promises to cut emissions and prevent deforestation/promote afforestation.

The biggest barrier we faced personally is our lack of money and difficulty getting the larger countries to provide to our efforts. We already had low emission rates which was beneficial, but we also had no money and majority of our country is in poverty. Because of this we were asking for money to help relieve the costs of our environmental efforts and benefit our citizens.

In my opinion, in order for us to catalyze change we must do everything we can to lower our emissions rate. To the best of our ability the citizens and government can switch to solar power and electric power that does not emit harmful CO₂ into our environment. We can also create more green space instead of these concrete jungles we keep spreading. We could also work towards aiding developing countries, so they have the opportunity to change their ways as well. If we do everything we can then that is better than doing nothing.

Watershed Walk Reflection: Eryn Hasty

In this picture, I see the daylight water source of Lily Branch located on East Campus.

What I notice in this picture that stuck out to me initially was the size and natural beauty of it! While it is no massive waterfall or something anyone might go hiking for, it is a beautiful pop of nature we are lucky enough to have in one of the busiest places on campus. People may not even recognize what is right in front of them.

This scene makes me think about, and honestly realize, how I spend so much of my time not taking in my surroundings. I have been a student at UGA and lived in Athens for over a year, and I have never noticed this watershed site until I was forced to go searching for it. I even work at the Ramsey Student Center which is directly next to where this picture of Lily Branch was taken and I had no idea it was there! Along with that, I had no idea about the intricate watershed system that I learned about while on my scavenger hunt. There are so many intricate places and structures that go into Lily Branch that I was oblivious to! This East Campus scene also made me realize that when I am not noticing things like this in my environment, it causes me to loose consciousness of how I am treating the environment and watersheds in my area. While I do not treat them “bad”, I have not put in any effort to treat them better. I have been oblivious to the situation and the need on campus for us to care for our watershed.

When I look at this picture, I feel peace. Water has always been a place where I feel calmed whether it be by an ocean, lake, pond, river, and even stream. The gentle movement of the water always allows me to take a step back and clear my mind. This picture also makes me feel motivated to spread awareness about how we can promote healthier watersheds in our area.

I think this picture is about realizing what is right in front of us that we often overlook. It will serve as a reminder for me, and hopefully others in our class, that we should recognize what our environment needs from us so that it can continue to be healthy.

Intro: Eryn Hasty

Hey y’all! My name is Eryn Hasty and I am a sophomore. I have had a good bit of exposure to science, as I am a pre-nursing major. My freshman year I took Honors Chemistry 1. This semester I am taking this biology class along with Anatomy & Physiology 1. In high school I took Biology, Chemistry, Physical Science, and Anatomy & Physiology. A & P is definitely my favorite science course as I am super interested in the human body (hence why I am pursuing a nursing career!) I also enjoyed chemistry last year because I have always been a “math” person, and chem had a lot of math aspects to it.

I am most looking to get out of this course a strong foundation for biology and life sciences so that I will be more than prepared as I enter higher level courses once starting nursing school.

I am most interested in the Rivers Alive Watershed Clean up Project. I love rivers and lakes, and have noticed before how litter not only affects the beauty of the nature for our enjoyment, but also the ecosystems living in these streams, rivers, lakes, etc. In all honesty, I have not been exposed to a lot of awareness about these issues, so I am sure my fellow students have not either. This project will give the opportunity to spread awareness about the issue and hopefully others can find a passion to help make Athens and surrounding areas cleaner.

By exposing more students to the problems we face in our own community through this project, I think we will be able to create a chain effect. Hopefully students can continue to make a change and engage in other communities such as their hometown or future places of residency to help with stream, river, and lake cleanups.

I would love to dive into genetics and diseases in this class, as it is relevant to the healthcare field. These topics are also applicable to all in our everyday life, no matter what major one may be pursuing!