The study will examine the role of the MEGF-10 gene in the inheritance of schizophrenia. There will be a control group of patients who have had a family history of schizophrenia, and have been diagnosed with schizophrenia themselves. The treatment group is to include patients diagnosed with schizophrenia who have no known family history schizophrenia. If the MEGF-10 gene is genetically linked to the development of schizophrenia, then it should be represented in both groups in equal amounts. If this is true, then some environmental factor would have to be at work in the onset of schizophrenia in patients who have no family history of the illness. Specifically, this could indicate that environmental factors during early development play a vital role in the onset of this disease.
Heritability of Schizophrenia from an Increased Expression of the MEGF-10 Gene
Schizophrenia can be defined as a general term that encompasses many mental illnesses. These various types of schizophrenia generally share a few similar symptoms including the following: hallucinations, delusions, blunted emotions, and disordered thinking (Encyclopedia Britannica, 2010). The issues troubling individuals with schizophrenia typically vary, and can best be thought of as being positive, negative, and cognitive symptoms (www.schizophrenia.com, 2009). Positive symptoms include the development of problems that are not typically experienced by a mentally healthy person, for instance, delusions. Negative symptoms can be thought of as the opposite; they include a lack of things that a mentally healthy person has. Negative symptoms could be something such as a lack of empathy or a total lack of social functioning (www.schizophrenia.com, 2009). Several components are necessary for a diagnosis of schizophrenia. This would generally include positive and negative symptoms, social dysfunction, and persistence of these two things over a period of six months (DSM IV-TR, 2000).
There are many elements that make up a treatment regimen for those diagnosed with schizophrenia. If symptoms are acute, psychotherapy alone may be needed to curb the illness. Unfortunately, most require medication. Currently, schizophrenia is most effectively treated with “typical” or “atypical” antipsychotic drugs (www.nimh.nih.gov, 2010). Typical drugs would be the original antipsychotics, while the atypical drugs are the second wave of treatment for patients with schizophrenia. The main difference between the two is that typical drugs often have more adverse side effects. Both types of antipsychotic drugs are extremely costly, do not cure the disease, and are required to be taken indefinitely (www.psychcentral.com, 2010). This raises the question as to where a possible cure for the illness might lie. Before understanding what types of treatment may prove effective, one must look at what is known about the heritability of schizophrenia.
Genetic inheritance has been shown to have a major impact in the development of schizophrenia (Slater and Cowie 1971). The risk of developing schizophrenia doubles if you have a third degree relative. Children of those with the illness boast at least a ten times higher incidence of contracting the illness. Certain sets of identical twins, carrying the same genome, do not always both inherit the illness. This leads researchers to think that schizophrenia cannot be entirely linked to a genetic source. These researchers believe that various genes and external influences of everyday life combine to form the expression of the disease. An alteration of a certain gene, catechol-O-methyltransferase, reduces the amount of dopamine in the patient’s frontal lobes. A direct consequence of this reduction includes some of the positive symptoms of schizophrenia (www.schizophrenia.com, 2009). The role genes play in physically altering the brain is an area that is currently under heavy investigation. The different representations of these genes can include a lessening of brain tissue overall, more localized changes, or a chemical alteration in the hippocampus. These types of variations point to schizophrenia as a neurological illness involving connectivity in the brain. This could very likely be a result of hypoactive or hyperactive production of the neurotransmitter dopamine. Narrowing the investigation down to the pathway utilizing dopamine greatly improves our chances of finding more effective treatments for the illness (Harrison 2005).
Environmental factors are also thought to produce great increases in an individual’s chance of developing schizophrenia. Physical stressors during early pregnancy or childhood are especially dangerous in this regard. Epigenetics is one current explanation for how the stress suffered even in one’s adult life could turn into schizophrenia (www.schizophrenia.com, 2009). The following steps may explain what happens when the body is stressed: genetic predisposition, neurodevelopment abnormalities, further dysfunction, and neurodegeneration (Glick 2005).
Research has become interested in identifying which particular genes are involved in this genetic predisposition. Some research suggests that multiple epidermal growth factors, such as, MEGF-10, may be involved. This particular cluster of genes influences skin cell growth. This poses the idea that certain neurons and skin cells could both be created from similar cells early on in embryonic development. X, Chen (2008) used a mix of schizophrenic and nonschizophrenic patients. They chose to study MEGF-10 because of its role in apoptosis. Apoptosis involves the process of preprogrammed cell self-destruction. Chen suggests that although a relationship between dysfunctional apoptosis and neurological disorders has long been suspected, it has yet to be shown. Their results showed that MEGF-10 was found more frequently in those with the disease, rather than the control group who did not have schizophrenia (Chen, 2008). This further supports the idea that schizophrenia is genetically linked, while not really saying anything for the environmental causes of the illness. This could be expanded upon by investigating how environmental stressors may lead to the development of schizophrenia. Looking into stressors that occur during early development would be a good starting point in explaining how schizophrenia could be triggered by environmental factors.
Method
Participants
The participants would be set to include a variety of individuals. Some individuals who have the illness, as well as a history of family battles with schizophrenia would comprise the treatment group. Patients suffering from schizophrenia who do not have the significant family history of the previous patients would make up the control group. Each group would be to have fifteen participants. This number was selected to reduce the impact of factors that were not controlled for. These factors could include unknown family members with the illness, an incorrect medical diagnosis, or many others.
Design
The experimental design would be relatively simple. It would include a mental health evaluation of the participants (for confirmation of having schizophrenia), genetic profiles of the participants, and a list of any known stressors during early childhood of the participants. Stressors could range from pregnancy issues to sickness during the early years of the patient’s life.
Materials
ü Test subjects to comprise the two groups
ü A mental health professional to evaluate the individuals
ü A doctor who could perform a genetic analysis for MEGF-10
Budget
ü Psychiatric evaluation per patient * Number of patients = ($75*30)=$2250
ü Compensation for test subjects=($50*30)=$1500
ü Genetic testing cost * Number of patients = ($200*30)=$6000
ü Genetic testing cost * family members = ($200*15)= $3000
Total $12,750.00
Procedure
The test subjects must first be carefully selected. They would have to be screened for having any signs of mental illness, having family members with any history of mental illness, and they would all need to have comparable levels of daily stress. A medical history as well as a patient interview would be used to determine if any significant stresses had occurred early in the life of the test subject. In addition to this, family members of these tests subjects would have to be available for further genetic testing. This may prove to be a time-consuming, but worthwhile process for screening.
After this initial screening, a more formal evaluation could be obtained. A psychiatrist, clinical psychologist, or otherwise accredited mental health professional would be required for this research. A mental evaluation could quickly be made for those who already had a history of schizophrenia, while a checkup for the completely healthy individuals would be even quicker. Cell samples would be collected from each member of each group. Each would be tested for the amount of representation of the MEGF-10 gene. The results would be analyzed.
Here is a plan for demonstrating how environmental factors during early development might trigger the development of schizophrenia in patients. The control group is to include patients diagnosed with schizophrenia who have a family history of the illness. The treatment group is to include patients diagnosed with schizophrenia who have no family history of the illness. A test for the MEGF-10 gene would be performed on both groups and quantitative data would be generated. This data would then be examined for the expression of the MEGF-10 gene. There is an expectance that the data would show similar representation between those who currently have schizophrenia and the family members with a history of the disease, due to the belief that expression of the MEGF-10 gene is associated with having schizophrenia.
As earlier tests have shown, we would expect a very different representation of MEGF-10 in patients with schizophrenia versus those who do not have the disease. The data would probably also show that the family members of the control group would probably not have the representation of the MEGF-10 gene. This is contrary to what most would believe if they were arguing for schizophrenia being an entirely genetically predisposed disease. If that is indeed the case, and the control group doesn’t’ have the representation, then we could conclude that environmental factors must be involved in the onset of the disease. This research will attempt to look to early developmental stress as the factor responsible for the sudden representation of the MEGF-10 gene.
Results
The results would nicely fit the criteria for conducting a two-way ANOVA on. The two factors would be the amount of stress and the representation of the MEGF-10 gene. Doing this would make showing a link between early developmental stress and the gene leading to schizophrenia very easy.
Discussion
This research could build on earlier work done with the genetic and social aspects of schizophrenia. If the hypothesis given here is true then it might lead us down a path more concerned with environmental influences on the development of the disease. This may show that this is the true cause of the problem for most individuals. If research is taken in that direction, we could find ways of prevention, as well as cures. For instance, knowing early environmental stressors may lead to schizophrenia would allow individuals to better plan and prepare for that possibility. Families could then begin early mental health evaluations for the victim of the stressor.
Science could build on this work by studying ways of reducing the impact of early stresses on development. Work could also be done to discover exactly how the stressor was damaging the developing nervous system of the individual. A better understanding of this would allow us to better understand how schizophrenia is affecting the body.
