Schizophrenia and Genetics

What is Schizophrenia?

Schizophrenia is a mental disorder characterized by symptoms including hallucinations, delusions, thought disorders and movement disorders. People with schizophrenia may also experience reduced positive emotions, and difficulty focusing. Scientists believe that schizophrenia can be both inherited and caused by the environment around an individual. Schizophrenia is typically begins between the ages of 16 and 30 and is more common in males than females. Approximately 0.4% of the population experience this genetic trait.

What Causes Schizophrenia?

Scientists believe that many different genes can contribute to the possibility of an individual developing schizophrenia. Some studies have put the number as high as 22,000 different genes contributing to the development of schizophrenia. A microdeletion in chromosome 22 called 22q11 has been identified as most commonly linked to schizophrenia. Because of the sheer number of different genes scientists suspect increase the risk of schizophrenia, I will focus on the 22q11 mutation. This mutation deletes between 30 and 40 genes in the middle of chromosome 22.

One of the genes that is typically deleted by this mutation is the COMT gene. This gene codes for an enzyme called catechol-O-methyltransferase which is found in the brain, liver, kidneys and blood. In the brain, the enzyme helps control certain hormones and is typically found in the prefrontal cortex. The prefrontal cortex is involved with personality, planning, behavior, abstract thinking, emotion and memory. The enzyme helps maintain sufficient levels of other neurotransmitters in the prefrontal cortex which affect the abilities above.

When this gene is deleted by the 22q11 mutation it affects the production of the enzyme in the brain. The loss of this enzyme affects the ability to maintain the levels of the neurotransmitters in the prefrontal cortex. This can affect the functions of this portion of the brain.

Another gene deleted by the mutation is the TBX1 gene. This gene is responsible for the formation of tissue and organs in embryonic development. The proteins created by this gene are specifically used for development of muscles and bones in the face and neck.

When this gene is deleted by the 22q11 mutation is affects the production of the proteins. While this can cause visible changes and other medical conditions it is believed that the loss of this gene also affects behavior.

Image result for 22q11 deletion syndrome

Genetic Testing for Schizophrenia

A person may want to get a genetic test because it will help them understand if they are at a higher risk for schizophrenia. Because of the number of genes thought to affect the probability of getting schizophrenia there are no tests that can accurately examine all the variables. The best option is to have a full genome sequencing because it will best be able to identify all the genes in question. However, this costs approximately $1325. A more cost effective option would be single gene sequencing. In single gene sequencing a person could examine the most common alleles causing schizophrenia such as COMT and TBX1.

Conclusiveness of Genetic Testing

There is evidence supporting a connection between these mutations and having schizophrenia. However, solely having these mutations does not mean a person will have schizophrenia. There are many different genes at play in this condition, but having these mutation will increase the chance.

Most people who have a family member who have schizophrenia will not have the condition. However, their chances are elevated compared to the average. There is no known inheritance pattern or measurable likelihood of having the condition.

Approximately 0.4% of the population have schizophrenia. Approximately 1% of people who have schizophrenia have the 22q11 deletion. Therefore if you have the variation you have a slightly elevated risk of developing schizophrenia.

Pros and Cons of Genetic Testing

Only 0.4% of the population have schizophrenia so the odds of a person having the condition are quite low. If a person has a history of schizophrenia it may be worth it to get the test done. People with a history of the condition in their family are more likely to have the disease than others. However, if there is no history of schizophrenia in your family the odds are even lower. Additionally, there are numerous variations that can cause the condition so even if the genetic test for the 22q11 deletion comes back negative a person may still have a risk of getting the condition. Also, even if a person does test positive for having the 22q11 deletion mutation they are not guaranteed to have schizophrenia it may only increase their chances.

If a person gets the test they may be fooled by the results. For example, if the person gets results that say that they have the mutation they may be worried about getting schizophrenia. However, even if they have this mutation they only have a 25% chance of having the condition. This may cause unnecessary worrying by the individual who has the test. In addition, there are many different genes which contribute to the probability of having the condition so one genetic test cannot give the individual accurate knowledge of their risk of having the condition.

The consumer may also have to worry about genetic privacy concerns. Some companies that conduct genetic testing may sell the results or may be susceptible to hacking which will jeopardize the privacy of the results. If the results are leaked the consumer may worry about discrimination in the workplace if the employer has access to the results.

Studies on Schizophrenia and Genetic Testing

There was one study that I could find on how people react to knowing their genetic likelihood of having schizophrenia. In this study it was found that people who were genetically more likely to have the condition often told people about their diagnoses and some people were even considering telling their employer.

Concerns about genetic testing for schizophrenia among young adults at clinical high risk for psychosis

What to do after a Genetic Test

If a person tests positive or negative they should not overreact. Neither positive nor negative test results are conclusive. If a person tests positive they may want to be conscious of the symptoms of schizophrenia. Then they could be conscious of whether they are feeling the effects of the condition and take measures to prevent it from progressing too far. Also if a person tests positive they could take steps to avoid certain activities that may put them more at risk for developing the condition. The best ways to avoid the development of schizophrenia is avoiding drugs (including alcohol) and socializing with others.

It would be helpful to tell a doctor if you have an increased risk of schizophrenia because the doctor can look out for symptoms of the condition. Often a person who has schizophrenia will not be in a good mental state so they may not voluntarily tell their doctor of their altered mental state. If the doctor knows that their patient is at higher risk of the disorder they may be more likely to notice any psychological changes.

If a person tests positive they should have psychological testing done. This will help them understand if they do have the condition and what to look out for within their mental state.

If a person thinks they are at a higher risk for developing schizophrenia they can make some efforts to lower those risks. They should avoid drugs and not overindulge on alcohol. In addition, they should try to be social and gain a positive perspective on the world. Doing these things will reduce the chances that a person develops schizophrenia.

Sources

Bhugra, Dinesh. “The Global Prevalence of Schizophrenia”. PLOS medicine. May 2005. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1140960/

Lawrence, Ryan E., et al.”Concerns about Genetic Testing for Schizophrenia among Young Adults at Clinical High Risk for Psychosis”. HHS Public Access. Jan 2017. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4982510/

Gejman, PV, Sanders, AR, and Duan, J. “The Role of Genetics in the Etiology of Schizophrenia”. HHS Public Access. March 2011. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2826121/

Patel, Krishna R., Cherian, Jessica, Gohil, Junj, and Atkinson, Dylan. “Schizophrenia: Overview and Treatment Options”. P&T. September 2014. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159061/

Lawrence, Ryan E., et, al. “Concerns about genetic testing for schizophrenia among young adults at clinical high risk for psychosis” AJOB primary research. July 2016. https://www.bioethics.net/articles/concerns-about-genetic-testing-for-schizophrenia-among-young-adults-at-clinical-high-risk-for-psychosis/

Bassett, Anne S., Chow, Eva W.C. “Schizophrenia and 22q11.2 Deletion Syndrome“ Canadian Institutes of Health Research. July 2011. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129332/

Rivers Alive Cleanup – Rory Bowles

On October 5th at 9am I attended the Rivers Alive Cleanup. I participated in the cleanup at the Derby and Branch location. I collected trash in between the road and the river and put it into a trash bag. We found many different items including tires, bottles, cans, rugs, electrical equipment, an animal skull (the picture above), and even a couch! We collected the trash for around 2 hours then we left.

It was heartbreaking to find all the trash by the road. I collected almost 100 old bottles while barely covering an area of 30 yards. Many of the bottles were buried in the dirt and appeared to have been there for many years before I found them and threw them out. Also, I found a plumbing pipe that had a tree root just growing through it. It was almost as if nature had begun to adapt to and grow around all the trash in the area. I did, however, have a glimmer of hope when I saw all the volunteers energetically helping with the cleanup.

It is very important to clean up our rivers and the trash in nature. Trees, plants and animals simply are not evolved to deal with trash and other artificial objects in the habitat. Although plants can grow around the bottles and old cans it is not ideal for their growth. Trash found in and around rivers has many unfortunate effects. This can dilute the water quality of the river which makes it uninhabitable for some aquatic animals. Also, the trash can build up and alter the natural course of the river.

At the end of the event I was proud of how much trash we can collected. However, then I recognized that this group of approximately 20 people had barely managed to do a relatively superficial clean up of this 100 yard stretch of road in two whole hours. Despite all our hard work I felt like we had barely made a dent in the bigger picture of trash in the world. Although events like Rivers Alive are nice and certainly help the rivers and surrounding area, if we want real change it will take more than an annual two hour event. Instead, people need to make an effort to first limit their littering, and second, there need to be more organized lasting efforts to clean up the existing trash. I enjoyed the event and I want to continue to make efforts to clean up the abundance of trash found in the wild.

Climate Change Simulation – United States

When I played my role in the policy exercise, I felt…

mildly perturbed. Despite us making deals with other countries, we seemed to barely make a dent in the temperature increase.

How did your reaction, comments, feelings; and shifts (if any) in negotiating positions evolve across the rounds and discussions?

In the first round we took a more hardline approach and refused to make any submissions until China made more of an effort to reduce their emissions. However, after the first round when we saw how far we were from reaching the goal we negotiated with China so that we would both reduce our emissions by more. Later on, we negotiated with India to ask them to request less money from the Green Fund.

How did your group change their ideas?

We decided that negotiating with China was necessary to reduce the temperature change.

What prompted that change?

When we saw the environmental apocalypse was still imminent despite our first efforts we realized that it would take a communal effort to save the planet.

In the end, do you think that emissions can be cut?

I do think that emissions can be cut. However, it will take significant investment from governments or large corporations to start these cuts. The government needs to create incentives for companies to make a pledge to reducing emissions.

What were the major costs and barriers to implementation of participant proposals?

In order to implement some of the proposals it would take significant monetary investment to build up the infrastructure to reduce or stop carbon emissions. Also, some countries were unable to fund these investments themselves so they asked for money from more wealthy countries such as the U.S.

How can we catalyze change in the US?

First, we need to stop our domestic climate emissions. This can be accomplished by the government providing incentives for companies that are environmentally friendly. In addition, we can focus on afforestation efforts by organizing events where trees are planted.

Watershed Reflection – Rory Bowles

In this picture you can see large amounts of erosion which were caused by water.
The main thing that struck me about this photo is the size of the hole that was created by the erosion. It is hard to tell in the picture, but eh hole was probably about the length of a school bus.
Someone may interpret this picture as just a simple hole in the ground, when in fact it is much more impressive than that.
When I saw this erosion in person and when I look at the image I feel awed by the power of water and how it managed to carve through the earth so easily.
I think this picture is about erosion and how this fits into the watershed system.

Rory Bowles

I took Biology, Earth Science, Chemistry, and Physics in high school. My favorite was physics because i was the best at it and I understood the concepts most fully.

I would like to appreciate biology more and better understand what I read in the news about recent biology discoveries and inventions.

The watershed clean up project interests me most. I have previously volunteered in my community and I always find volunteering fulfilling. Other students would appreciate the cleaner watersheds.

Helping with this service project would help me appreciate clean areas more and inspire me to continue to volunteer.

I would like to have a better understanding of things that make up everyday life which we take for granted.