Scholarly Article on Redefining Mental Issues: The Schizophrenia Gene

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Schizophrenia and mental health are issues of great importance in 2016 and the recent discovery of the gene that causes schizophrenia points scientists and researchers in a new direction that may lead to improved treatment and medication for the disease. This sample scholarly psychology paper explores the genetics of schizophrenia.

Understanding schizophrenia

When most of us think of schizophrenia, we think of people who many hear voices, act erratically, or talk to themselves. Schizophrenia is a disease that has been very misunderstood in the past, but new breakthrough research may have given scientists, doctors, and other interested parties a path toward preventing the disease for people in the future, or at least controlling it in patients who already have it.

A definition of the disease is covered here, as well as its symptoms, risk factors, treatments and therapies, information on the C4 gene which may cause schizophrenia, what the discovery of C4 means for schizophrenia patients and their families, and what the discovery means for future studies of the mental disorder.

Schizophrenia is a difficult, long-term mental illness which often begins to affect people in their late teens to the early thirties (usually earlier for men than for women) – between the ages of 16 to 30 is most common (NAMI). It is very uncommon for a diagnosis to come about before the age of 12 or after the age of 40, but it can happen. The National Institute for Mental Health (NIMH, “Schizophrenia”) states that schizophrenia is chronic, severe, and can be devastating to a person’s life in many cases. Schizophrenia affects more than 21 million people in the world today (Courage).

Symptoms of the mental illness

Schizophrenia symptoms are placed under three different categories, according to the NIMH:

• Positive — psychotic behaviors not normal for healthy people
• Negative — disruptions to normal emotions and behaviors
• Cognitive — subtle or severe changes in memory or thinking aspects

Positive symptoms commonly seen in schizophrenic patients include hallucinations, delusions, thought disorders such as unusual or dysfunctional thinking, and movement disorders or agitated body parts.

Negative symptoms include a “flat affect” meaning reduces emotional, facial, or voice tone expression; reduced feelings of pleasure in everyday life; difficulty beginning and sustaining activities; and reduced speaking.

Cognitive symptoms include poor ability to understand information and use it to make good decisions (executive functioning”), trouble focusing or paying attention, and problems with “working memory” – the ability to learn information and immediately use it (NIMH, “Schizophrenia”).

Schizophrenia risk factors

According to the National Institute of Mental Health (NIMH), schizophrenia has long been known to be an inherited disease; however many people who have schizophrenia do not have a relation or family member with it, and often families in which schizophrenia is present do not have another family member who has the disease (“Schizophrenia”).

Above and beyond that, not much was known about the cause of schizophrenia in the past, although some scientists have believed that many different genes may increase a person’s risk of having the disease (NIMH, “Schizophrenia”). Scientists have not found a gene which alone causes the disorder, so it is not yet possible to predict the disease with genetic information (NIMH,“Schizophrenia”).

There is also a suspicion among scientists that genes alone are not responsible for schizophrenia and its symptoms; some believe that environmental factors such as exposure to certain viruses, in utero malnutrition, problems during birth, and/or psychosocial factors may help cause the disorder. In addition, an imbalance in the brain’s chemical reactions may affect the dopamine and glutamate neurotransmitters, causing faulty connections following puberty (NIMH, “Schizophrenia”).

Recognized treatments and therapies

Up until the recent discovery, psychiatric treatments for schizophrenia has been focused on stopping its symptoms; without a known to cause, it is impossible to approach the disease from a preventive viewpoint (NIMH, “Schizophrenia”). There are three main treatments or therapies associated with the prevention of schizophrenic symptoms:

• Antipsychotics
• Psychosocial treatments
• Coordinated specialty care

Antipsychotics

Courses of antipsychotics are intended to reduce symptoms such as hallucinations, delusions, and bodily and thinking disorders; these are usually given in a daily pill or liquid form, but can be bi-monthly or monthly injections (NIHM, “Mental Health Medicines”). Some commonly used antipsychotics are:

• Chlorpromazine
• Haloperidol
• Perphenazine
• Fluphenazine
• Risperidone
• Ziprasidone
• Paliperidone

Some patients may have side effects when they first begin an anti-psychotic medicine course, but according to the NIMH, these side effects usually go away after a few days (“Mental Health Medications”). Among these side effects, agitation and hallucinations usually go away within the first few days of the anti-psychotics course; delusions are also common and may be present up to six weeks of the course (NIMH,“Mental Health Medications”).

Relapse sometimes happen while on anti-psychotics, and many patients stop taking their medication when they begin to feel better, leading to relapse or increased schizophrenia symptoms (NIHM, “Mental Health Medicines”). Some side effects that are common according to the Federal Drug Administration (FDA) are:

• Drowsiness
• Dizziness
• Restlessness
• Weight gain
• Dry mouth
• Constipation
• Nausea
• Vomiting
• Blurred vision
• Low blood pressure
• Uncontrollable movements
• Low white blood cell count

Psychosocial treatment

Psychosocial treatment for schizophrenia includes problem-specific treatment, family psychoeducation, day hospital/vocational rehabilitation, cognitive behavioral treatment, and education of the patient, crisis counseling access for the patient and the family, inpatient psychiatric care with is easy to obtain, and case management to help with the various portions of schizophrenic treatment (Bellack).

The combination of these two treatments with a goal of at least partial recovery is known as coordinate specialty care (CSC) (NIMH, “What is Coordinated Specialty Care?”). In CSC, a team of specialists in psychotherapy, medication management, family education and support, case management, and other areas of specific patient need works on the recovery goals of the patient (NIMH, “What is Coordinated Specialty Care?”)

Coordinated care teams

It is imperative that prescribers of anti-psychotic medicine (doctors), CSC teams, other involved healthcare specialists and the patients work together in order to find the best medication, combination, or right dosage for each individual patient (NIMH “Mental Health Medicines”). Psychosocial treatments can be implemented and encouraged, as schizophrenic symptoms should then be under greater control for the patient in general (NIMH, “Mental Health Medicines”). All of these symptoms and side effects can be very difficult for anyone to handle, and even more difficult for an adolescent or recent adolescent to understand and live with.

The gene responsible for schizophrenia

Medical researchers have found a gene (after examining 100,000 human DNA samples from 30 countries) named C4, which increases schizophrenia risk in individuals who have it, as reported by the scientific journal Nature (Siddique; as cited in PBS). Alison Stewart of PBS noted that schizophrenia affects upwards of 2 million Americans at the present time. The author of the Nature study which found the C4 gene is Steven McCarroll, a Harvard University associate professor of genetics (PBS).

C4, according to McCarroll, is located on the human genome with hundreds of immune systems, a region that was linked to schizophrenia through previous studies; the essential role of the C4 gene is to instruct the brain to eliminate certain synapses (the connections between nerve cells) during the human brain development (PBS). Dr. McCarroll noted that everyone experiences a high rate of synapse elimination naturally in their twenties and teenage years.

Internal brain problems and the C4 schizophrenia gene

However, the study demonstrates that at times this elimination process instigated by the C4 gene may go “haywire” and unnecessarily destroy the connections between many nerve cells, causing schizophrenia (PBS). McCarroll indicated that schizophrenia drugs treat only the psychosis symptoms of the disease, when in fact the worst part of the disease for many patients is the cognitive decline many experiences in the first decade after they are diagnosed (PBS).

The drugs used in schizophrenia treatment and therapy, in other words, do not address emotional stability and physical health, cognitive losses, emotional withdrawal, or the underlying disease at all – and this is most likely due to the fact that we never knew what was causing the disease to exist or progress (PBS). Psychosocial treatments and coordinated specialty care may help patients where anti-psychotics cannot; however, without knowledge of the actual cause and source of the disease, many patients were left to fend for themselves in these areas.

The C4 gene's impact on schizophrenic patients

Rachel Rettner of Scientific American reiterates that the elimination process that the synapses undergo due to the C4 gene “synaptic pruning,” which she states could lead to mental illness in certain patients. The fact that synaptic pruning happens during the teen years also indicates that there is a connection between the schizophrenia and the C4 gene (Rettner).

Scientists who work with C4 genes may be able to discover an anti-psychotic or other method or medicine which effectively “turns down” the pruning process on high-risk patients’ synapses in order to prevent or mitigate the effects of schizophrenia (Rettner). The DNA region that C4 affects is located on chromosome 6 in the human genome; using postmortem brain samples, the team discovered that the higher C4 gene activity was in the human brain, the higher their risk of developing schizophrenia.

While the C4 gene is not the solution to schizophrenia, it might very well be the initial step on the path to finding a more effective treatment or prevention technique that will help schizophrenics cope with the disease or prevent its initial onset in a way that will help the patients themselves immensely.

Works Cited

Bellack, Alan S. “Psychosocial treatment in schizophrenia.” Dialogues in Clinical Neuroscience, 3.2 (2001): 136-137. Print.

Courage, Katherine Harmon. “Variations in a Gene Provide Clues about Schizophrenia.” NPR. 2016. Web. 11 March, 2016.

National Institute for Mental Health. “Mental Health Medications.” NIMH. Web. 11 March 2016.

National Institute for Mental Health. “Schizophrenia.” NIMH. 2016. Web. 11 March 2016.

PBS. “Scientists Open ‘Black Box’ of Schizophrenia by Discovering Potential Genetic Cause.” PBS Newshour. NewsHour Productions, LLC. 11 March 2016.

Rettner, Rachel. “‘Schizophrenia Gene’ Discovery Sheds Light on Possible Cause.” Scientific American, A Division of Nature America, Inc., 2016. Web. 11 March 2016.

Siddique, Haroon. “Schizophrenia Breakthrough as Genetic Study Reveals Link to Brain Changes.” The Guardian. 27 Jan, 2016. Web. 11 March 2016.