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Discovery links BMPR2 gene to primary pulmonary hypertension

Written by Julie Buckles
Reviewed by Ah Ram Kim
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The article by Julie Buckles is written based on the results from two different research teams—international collaborated group and a research group from the Columbia University. She emphasizes main results from those two groups, which is identification of the relationship between the gene BMPR2 mutation and Familial Primary Pulmonary hypertension (FPPH). According to the quote included in this article, discovering of the mutation on the gene BMPR2 as a cause of FPPH is important, because it is a first genetic mutation that is known to be associated with lung disease. BMPR2 is originally known for the gene that is required for bone development. Therefore, both research teams were interested how the mutation on BMPR2 is associated with FPPH. From the summarized results written in the article, the mutation on BMPR2 causes cells in pulmonary artery to have less or abnormal signaling in order to respond injury in the artery. As a consequence, it triggers proliferation of lesion, which accumulates and eventually reduces the size of vessel. Therefore, the workload of the right side of heart increases in order to pump same amount of blood into smaller vessel, which causes primary pulmonary hypertension as a consequence. In this article, it mentions the penatrance, brief method, significance of the study, and limitation or advised future study. According to the author, this study is significantly important, because patients or family members of a patient can have molecular diagnosis to determine whether a person has mutated BMPR2 that may develop into the lung disease, FPPH in this case. As a limitation, both research groups did not find whether the mutation of BMPR2 is the only cause of PPH as in genetical perspective. In addition, many questions are still remained unclear, such as a reason of higher disease affect rate for women than for men or a reason of indicating symptoms of the disease at average age of 36. Therefore, this article goes through briefly about important results that patients may be interest about.

 

Purpose or role of the popular press is to convey the important findings from current research to the public. In my opinion, science is a field with high technologies involved. What scientists find from their research is not only for contribution of developing current science, but also to make “better life” through those outcomes of research. In order to do that, popular press serves as a bridge between scientific world and the public by explaining unfamiliar scientific terms with easier words. From this perspective, the author of this article has accomplished well. The author explains well in terms of stating main points or main results. For example, she mentions which gene is involved with FPPH and why this research work is significant. In addition, she adequately explains the general mechanism of the effect of this mutation, limitation, and future studies that are needed to work on. When she explains each term, it is written with easier words that aid general public to understand about this disease.

 

On the other hands, the article can be improved by adding a few details. First of all, the article fails to include detail methods. Even though the results are important and interesting for the general public, there is no stating how those two groups have conducted this experiment and how conclusions have been drawn out. Understanding how the experiment is conducted and how conclusions are made is an important and makes unique of the research. Therefore, the author could do better by explain methods with easier words. Moreover, I would suggest briefly mentioning what PPH is. For example, it would be nice to start with providing definition, other causes of PPH, and a reason of genetical approach to this lung disease. In addition, all detail descriptions are missing. For instance, one of causes reducing size of vessel is due to proliferation of lesion. Author could write more descriptively what lesion is and why proliferation is a consequence in this process. Also, when the author says “high blood pressure,” it would be better to define the blood pressure with numeric number. Furthermore, the author fails to distinguish work from each research group. Since the article tries to combine all significance found from two different research teams, it would be better to distinguish what each group found before comprising all results into one sentence. Lastly, the author uses figures from the paper written by the International PPH Consortium et al. The article can be improved by explaining what the figure represent and who it is related to the PPH.

 

In a conclusion, popular press is important providing general information to public as well as explaining significant results with their implication, efforts, methods, purpose, and history to help readers’ understanding. With all these components, popular press will communicate more effectively with the general public by providing important scientific information.
[1] Buckles, J. (2000, August 11). Discovery links BMPR2 gene to primary pulmonary hypertension. Genome News Network. Retrieved from http://www.genomenewsnetwork.org/articles/08_00/pulmonary_BMPR2.shtml
Website: Ah Ram Kim
Email: [email protected]
Last Updated 05/14/2010