A Genetic link: the GMR Gene family and ADHD condition
This web page was produced as an assignment for an undergraduate course at Davidson College
Image of a neuron courtesy of Wikimedia commons
For most of the general public, scientific articles may as well be in another language. The data, methods and what Kua et al. refers to as “sociology of science” are not easily comprehendible to someone unfamiliar to the field. It therefore becomes the reporter’s job to convey the information presented in a form that not only the general public will understand but also sticks to the original message. In "A study of reporting genomics", investigation of various publications show that differing reporters encounter problems conveying scientific information and its context to an extent that articles about the same scientific paper can alter the overall message of the original source (Kua et al. 2004). In the following webpage, I too will explore the differences and similarities of the information conveyed in a genomics journal article versus a subsequent publication in USA today about its findings.
In the paper "Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder" the researchers reported on the discovery of a genetic influence in the formation of attention deficit hyperactivity disorder in ten percent of the subjects they sampled. Analyzing the whole genomes of 1,013 samples with ADHD versus 4,105 healthy samples for copy number variations (CNVs), the researchers found statistically significant results of CNVs affecting glutamatergic neurotransmission genes in 10 percent of the cases with ADHD. So what does that all mean? Well, copy number variations are structural changes in the DNA, such as duplications or deletions that can result in abnormal translation and are thought to probably cause diseases (Stankiewicz and Lupski, 2010). Glutamate receptor genes code for receptors found in neurons and therefore potential variations of the genes can affect neuron transmission, formation, and their interconnections. The article discusses the process in which the researchers determined the copy number variations through analysis of the whole genomes of the samples examined in multiple independent cohorts that included 2,493 cases of ADHD and 9,222 controls (all of European descent). The pure statistical analysis would be hard for anyone to understand but the important message to come away with was that a genetic variation was discovered, important for our understanding of the genetic origin in the development of the disorder. Furthermore, the research pinpointed an area to be further explored: the biological effects that changes in the GMR pathways have and the role that GMR, and all of its interacting genes have in ADHD. Finally, in the last paragraph the authors allude to future applications to this discovery and discuss the potential to create new treatment plans for individuals with variants in the GRM genes by utilizing GRM agonists. However, the emphasis of the article is on the methods used to discover the findings from the raw data of the whole genome sequencing.
In the USA Today article titled “Study: More evidence links specific genes to ADHD,” the authors first sentence is a good indicator of the oversimplification and generalization seen throughout the rest of the publication. Most of the actual results of the research are omitted and instead watered down to “variations in genes involved in brain signaling pathways appear to be linked to ADHD” (Preidt, 2011). This is a good example of how reporters over generalize when trying to translate scientific findings, and by omitting specific details do not give the public an informed overview of what was actually discovered. Here there is no mention of GMR pathways or what types of variations are actually in the genes and truthfully anyone would probably assume that in ADHD there are problems in brain signaling pathways.
Throughout the rest of the article Preidt does provide a little more information however, there is little focus on the results and the methods used to find said results. Instead the entire emphasis of the article shifts to giving the public context to the issue: or why they should care about this important discovery. In the second sentence Preidt says “the findings suggest that drugs that act on these pathways may offer a new treatment option for ADHD patients with the gene variants” (Preidt, 2011). This is an accurate statement and shows the application of the research. However, this underplays that an incredible amount of subsequent studies, experiments, and clinical trials are needed before such an application can be realized. In an effort to give the public a reason to why they should care about this issue, Priedt strays from the actual findings and the methods used discover them.
By the third sentence, we finally are introduced to some information about how Elia et al. came about finding their results, or the context to understanding the research methods utilized. However, Priedt dedicates only three sentences to what the researchers actually did and throws out the term copy number variations without explaining it or why it is important when found in the glutamate receptor genes. As Kua et al. says “the science is pared down to isolated facts rather than effectively translated with methodology and context included” (Kua et al. 2004).
The rest of the article is basically two quotations one from the director of the Center for Applied Genomics at the Children’s Hospital and an ‘expert’ commenting on how the results could be important in the future. Again the emphasis is on the application of the research, a very important aspect, but not the point of the primary journal article being discussed. In fact the application of the research was found in the last sentence of the primary journal article with the rest being dedicated the methodology and importance of finding a genetic influence in the first place. In this way we can clearly see how publications aimed to be easy to read and eye catching can actually change the information found in the original journal article. The public is not given enough information, detail, or context to really understand what was discovered. It is important that reporters strive to change their style of articles because in a world dominated by research and its findings, it is important for the general public to be informed and interested by what scientists are discovering every day.
- Eunice Kua, Michael Reder, and Martha J. Grossel. 2004. Science in the News: A Study of Reporting Genomics. Public Understanding of Science. 13: 309–322.
- Preidt, Robert. “Study: More evidence links specific genes to ADHD”. USA Today Health Day. 05 Dec. 2011. Accessed 23 Jan 2013. <http://usatoday30.usatoday.com/news/health/healthcare/health/healthcare/studies/story/2011-12-05/Study-More-evidence-links-specific-genes-to-ADHD/51649908/11>
- Elia, Josephine, et al. 2011. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nature Genetics. 44: 78-84. Acessed 23 Jan 2013. <http://www.nature.com/ng/journal/v44/n1/full/ng.1013.html>
- Pawel Stankiewciz and James R. Lupski. 2010. Structural Variation in the Human Genome and its Role in Disease. Annual Review of Medicine. 61: 437-455. Acessed 31 Jan 2013. <www.annualreviews.org/doi/full/10.1146/annurev-med-100708-204735>
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