December 1, 2014
A Genetic Review of Schizophrenia: Research progress of chromosomes 22 and 8
Present to: Geraldine Boyden
By: Quiana Jones
Core Articles:
Gill M, Vallada H, Collier D et al: A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Am J Med Genet Neuropsychiatr Genet 1996; 67: 40–45.
Polymeropoulos MH, Coon H, Byerley W, et al: Search for schizophrenia susceptibility locus on human chromosome 22. Am J Med Genet 54:93-99, 1994
Pulver AE, Karayiorgou M, Wolyniec PS et al: Sequential strategy to identify a susceptibility gene for schizophrenia: Report of potential linkage on chromosome 22q12–q13.1: Part 1. Am J Med Genet
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The risk of being affected by schizophrenia is increased by a factor of 10 for siblings or offspring of a patient (Schizophrenia). The risk for second and third degree relatives is increased by less than siblings and offspring (Gottesman et. al.). Figure 1 shows a relative break down of lifetime morbid risks for different family relations from studies conducted between 1921 and 1987 (Gottesman et. al.).
Common symptoms include hallucinations, reduction of social interactions, and a decrease amount of emotional expression; hearing voices that others do not and believing that others are able to read and control ones thoughts have also be observed in schizophrenic patients (Mayo Clinic Staff). Early symptoms of schizophrenia may be hard to recognize because they are often similar to those of teenagers and young adults; these symptoms include withdrawing from friends and family, preforming poorly in school, trouble sleeping, irritability or depression, and lack of motivation (Schizophrenia).
Treatment for schizophrenia usually includes a combination of medication and therapy. Medications are most commonly prescribed are antipsychotics. These affect the release of neurotransmitters in the brain such as dopamine and serotonin, which are thought to control symptoms of schizophrenia (Mayo Clinic Staff). Medications can often cause side effects that render patients unwilling to continue taking them. In these cases, treatment has
Schizophrenia is a brain disorder that affects the way a person acts, thinks, and sees the world. People with schizophrenia have a completely different perception of reality, such as a significant loss of contact with it for example, compared to people who do not suffer from this mental disease. They tend to panic a lot, feel like someone is trying to harm them or their loved ones, fear that someone is watching every move they make. Although they hallucinate a lot and/or are delusional, most people with schizophrenia are not violent and are not a danger to others. (Helpguide.org, 2015)
The biological explanation of schizophrenia also claims that the disorder can be inherited. The more common the disorder is among the biological relatives and the closer the degree of genetic relatedness increases the risk of the child developing schizophrenia. Gottesman’s research (1991) found a genetic link with schizophrenia when looking at children and their relatives. The research discovered that children with two schizophrenic parents have a concordance rate of 46% compared to children who just have one schizophrenic parent to children who have a concordance rate of 13% and siblings just 9%. The genetic theory of schizophrenia also suggests that monozygotic twins (twins who a genetically identical) should have a higher concordance rate of schizophrenia than dizygotic twins (twins who are not genetically identical) because they have a closer degree of genetic relatedness.
Schizophrenia is a unique disease in its pathophysiology. For their early lives, patients appear healthy. However, symptoms begin to appear during adolescence or early adulthood and may be triggered by changes in the brain during puberty. The first signs of the illness include anxiety, depression, changes in friends, sleep problems, irritability, dropping grades, and having trouble concentrating (Picchioni and Murray, 2007; National Institute of Mental Health (NIMH)). Delusions and hallucinations typically begin between the ages of 16 and 30 (NIMH).
Those that are recognized increase the possibility only by extremely small quantities. Consequently, these “genome scans” are improbable to offer a whole image of a person’s danger for acquiring a mental disorder like schizophrenia. Additionally, it possibly endures more than genes to instigate the disorder (Stefansson, Ophoff, Steinberg, Andreassen, Cichon, Rujescu, & Kahn, 2009). Experts reflect communications amongst genes and the environment are essential for schizophrenia to grow. Several environmental issues might be comprised, such as revelation to viruses or malnourishment before birth, difficulties during birth, and other not yet recognized psychosocial issues.
In a human there are 23 pairs of chromosomes. Each chromosome has a long and a short arm. The long arm is represented by the letter q and the short arm is represented by a p. According to Origins and Development of Schizophrenia on chromosome 3p, 5q, 6p, 8p, 20p, 22p there is evidence of schizophrenia development and chromosome 6p and 8p have the highest
The genes that the NIB believes causes the likability to have shizophrenia would be 4 (RGS4), D-amino acid oxidase (DAAO), Dopamin receptor (DRD3), seratonin 2a receptor (5HT2a) and Catechol-O-methyl transferase (COMT). All of these genes cause the human mind to have the likability, but it still doesn’t determine the true likelihood. If you had all of these genes, there is still the possibility of not having schizophrenia. And if you had some of these genes, they could cause schizophrenia. The amount of these genes and the effects of these genes can all cause schizophrenia, but they don’t give a clear answer. If the testing can not provide a clear answer to the genetic disease, it is basically useless
Biological theorists believe that individuals may have a genetic predisposition for the schizophrenia if a close family member has been diagnosed with the disorder. Stress during adolescent years seems to provoke the disorder among individuals who have a family history of the disorder. In addition, this theory suggests biochemical abnormalities related to the dopamine neurotransmitters may also contribute to the illness as the brains neurotransmission of the dopamine is too frequent in occurrence (Comer, 2005). CAT and MRI scans have also indicated that abnormal brain structuring may also play a role in the development of schizophrenia due to a common occurrence of enlarged ventricles within schizophrenia sufferers (Comer, 2005). Various parts of the brain may not develop for function properly which seems lead to Type II schizophrenia. Studies have also pointed towards the idea that exposure to certain viruses before birth may lead to the eventual development of schizophrenia (Comer, 2005).
This can also be accounted for distant relatives who are unlikely to share the same environment. We can therefore assume that to confirm a genetic base for schizophrenia, research must separate genetic influences from environmental influences. In order to do this, researchers must look at the evidence presented through twin studies. A set of MZ twins share the same genes, therefore if only one of the develops schizophrenia, it is more likely to be through environmental factors.
In 1979, Iconic pin up model Bettie Page, diagnosed with schizophrenia and confined to a psychiatric hospital for nearly 10 years. According to NIHI, most people with this disorder are diagnosed in their 20’s and this disease effects less than one percent of the population. New research findings published to the American Journal of Psychology by Washington University School of Medicine, show a link between genetic disposition and the onset of schizophrenia. Researchers analyzed the genes of 4,200 patients that were diagnosed with Schizophrenia and 3,800 patients with no history of schizophrenia. The research concluded that certain genetic make ups can put individuals at an increased risk for developing schizophrenia.
2. A strong family history of mental disorders is considered as a highly probable cause of schizophrenia, while those who are much less genetically vulnerable are believed to catch the disorder through environment stressors during their lives.
Prior to the study, it was known that chromosomal rearrangements within the 22q11.2 locus have been associated with an increased risk of neurodevelopmental disorders. Specifically, 22q11.2 deletion holds the greatest risk for schizophrenia, approximately 30 times the risk, while 22q11.2 duplication is associated with autism and delays in psychomotor development and language. This study was the first to look at the effect of 22q11.2 (deletions and duplications) on brain morphology.
Three microsatellite markers on chromosome 22q11 were genotyped for each individual. The analysis showed no links between any of the three markers. In addition, an association study was performed on unrelated schizophrenic patients and normal control individuals. No association was found between schizophrenia and the four genes tested on chromosome 22q11.2
Schizophrenia can be passed down thru generations even though there is not a specific gene associated with the disorder. It is considered to be a combination of genes that make a person susceptible to becoming schizophrenic. This information is found mainly thought the study of twins. By having the same genes it can be viewed why genes contribute to the potential of schizophrenia. Even though genetics is a viable factor in the analysis of the cause of schizophrenia there are more supporting factors found in neurotransmitters.
1978 shields discussed 11 studies of the identical and non-identical co-twins of over 1300 schizophrenics from seven countries and then of these comparisons showed a higher concordance rate among identical twins. (A, C, Smith 1982 p.g 93) Research is still going on today to find out more about how genes and life events influence who gets schizophrenia.
Conclusions / Results: Conclusions suggest that the nature vs nurture dichotomy may not be as relevant as looking at the interaction between these two forces. It was discovered that while one’s genetic heritage creates a predisposition towards schizophrenia, other factors such as the home environment, the parental environment, dietary factors and others may determine whether the disease is manifested.