This web page was produced as an assignment for Gen677 at UW-Madison Spring 2009
PHG Foundation Review:
In June 2006, the Phg foundation released an article, by Dr. Ireena Dutta, entitled "Down's Syndrome and the role of the NFAT signaling pathway." This article is a review of a paper put out by Arron et al. "NFAT dysregulation by increase dosage of DSCR1 and DYRK1A on chromosome 21", published in Nature (also in 2006). The review praises Arron et al. for identifying a key pathway leading to many of the defects associated with Down's Syndrome. What makes the work done in this study different than previous research in the area, is demonstrating that a disruption in the NFAT signaling pathway, caused by an overdose of DSCR1 and DYRK1A, results in tissue development defects associated with Down's Syndrome. (1) This over expression of DSCR1 and DYRK1A comes from the presence of a third copy of 21st human chromosome.
The review gives a well explained description of the study performed by Arron et al. in a brief overview. It focuses in on the methods and results provided from the paper. The Phg foundation is concerned with "making science work for health" (1) and in the comments about the paper at the end of the article, Dr. Dutta explains that the work done through this experiment does not have any immediate solutions of therapeutic relief for people suffering from Down's syndrome. However, it does provide a reasonable mechanism to explain how a set of features associated with this disease can develop. (1)
Overall, this review does a thorough job of explaining and highlighting the important factors from the scientific discovery made. Since it is intended for a more science-based audience, the reviewer is not afraid to use technical terms relating to the biology of the pathways involved. Unfortunately, a review meant for a more lay audience could not be obtained for a better comparison between how a scientific article vs. a popular press review would address this topic.
References:
1. PHG Foundation (5 June 2006). Down's Syndrome and the role of NFAT signaling pathway. Retrieved February 9, 2009, from http://www.phgfoundation.org/news/2518/
*Picture retrieved from referenced website
Margaret Noll, [email protected], last updated 4/9/2009, http://www.gen677.weebly.com
