Tuesday, 20 March 2012

Gene Site Linked to Schizophrenia

Many of us would consider our behaviour, our thoughts, our sense of self and our relationships with others [1] to be key factors that define who we are. These personal characteristics and relationships are ultimately disrupted as a result of schizophrenia [1], which is a mental disease that “will affect around 1% of the population at some point” (Barlow, David H. & Durand, V. Mark 2012)[2].

While schizophrenia seems to be associated with certain environmental, social and chemical factors, scientists have been searching for genetic links to the disease for over a century [6]. A research team from Louisiana State University (LSU) investigated the genetic makeups of various groups of people, including those that were diagnosed with schizophrenia, and those free of mental disease. Their studies revealed the presence of specific variations on chromosome 6 that appeared to be more common among those with schizophrenia. They have been able to link variations in the p22.1 section of chromosome 6 to an increased risk of schizophrenia [6].

Each cell in the body contains two versions of chromosome 6, as one copy is inherited from each parent [8]. It is an area of genetic material that is particularly important for the functioning of the immune system, therefore there is hope that someday we may be able to base treatments for schizophrenia on those that are used for autoimmune disorders [6].

The investigation of endophenotypes forms the basis of research into the genetics of schizophrenia. Endophenotypes are symptoms specific to a disease that have links to the sufferer’s genetic composition [2]. For example, we may notice that a schizophrenic has trouble making eye contact. Research may reveal that this symptom is an endophenotype, and therefore is linked to a specific gene. While the diversity of schizophrenia makes the identification of endophenotypes difficult [2] the LSU’s research has provided insight into the links between schizophrenia and genetics.

At present, antipsychotics are the most effective form of medical treatment available for those with schizophrenia [3]. Unfortunately it is often difficult to predict the side effects of antipsychotics, and also to calculate the specific dosages that will minimise these side effects, but maximise treatment.

This unpredictability means that pharmacogenomics plays an important role in the research of mental disorder treatments. Pharmacogenomics is a research branch  that combines pharmacology and genetics [7]. It therefore focuses on identifying treatments based on both medications and genetic composition. This results in the specific formation and administration of drugs based on a patient’s individual genetic material. As the versatility of antidepressants is quite limited, this research is particularly important for treatment of schizophrenia [7]. The newly discovered link between chromosome 6 and schizophrenia may also allow further research to be made into the pharmacogenomics of the disease.

Although a variety of factors appear to contribute to the disease, information about the genetics of schizophrenia allows its origins to be better understood and “opens doors to new and potentially better treatments” (Nauert PhD, R. 2009) [2].

1.     Anderson, Douglas M. 1989, Dorland’s Pocket Medical Dictionary, W.B. Saunders Company, Philadelphia
2.     Barlow, David H. & Durand, V. Mark 2012, Abnormal Psychology-An Integrative Approach, 6th edn, Wadsworth Cengage Learning, Canada
3.     Grohol, John M. Psy.D. 2006, Schizophrenia and Psychosis Treatment, Psych Central, viewed 13th March 2012, http://psychcentral.com/disorders/schizophrenia/schizo_treatment.htm
4.     Marshall University Information Technology, PARK2 Gene, viewed 17th March 2012, http://mupfc.marshall.edu/~baker159/index.html
5.     Nauert PhD, R. 2008, Side-Effects of Antipsychotics, Louisiana State University Health Sciences Center, viewed 17th March 2012, http://psychcentral.com/news/2008/10/06/side-effects-of-antipsychotics/3072.html
6.     Nauert PhD, R. 2009, Genetic Site for Schizophrenia, Louisiana State University Health Sciences Center, viewed 13th March 2012, http://psychcentral.com/news/2009/07/10/genetic-site-for-schizophrenia/7036.html
7.     National Human Genome Research Institute 2011, Frequently Asked Questions About Pharmacogenomics, National Institutes of Health, viewed 13th March 2012, http://www.genome.gov/27530645#al-1
8.     U.S. National Library of Medicine 2011, Chromosome 6, viewed 16th March 2012, http://ghr.nlm.nih.gov/chromosome=6 
9.     Zimmerman, Jon 2011, Catatonic Schizophrenia: Symptoms and Treatment, viewed 17th March 2012, http://www.buzzle.com/articles/catatonic-schizophrenia-symptoms-and-treatment.html


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