This web page was produced as an assignment for Genetics 677, an undergraduate course at UW-Madison.
Popular Press Review of "Genetic Bases for Glaucoma" (1).
As the prevalence of glaucoma continues to increase on a global scale each and every year, it is vital that individuals familiarize themselves with the origins of such a vision-threatening disease that often goes undetected as is done in the article "Genetic Bases for Glaucoma," a summary of the genetic facets of glaucoma. Nobuo Fuse, author of "Genetic Bases for Glaucoma," uses this article to reveal the complex genetic factors involved in the multi-factorial eye disease glaucoma. Fuse, an opthalmologist at Tohoku University Graduate School of Medicine in Japan, makes sure to place an appropriate emphasis on the environmental factors that, combined with the genetics factors, also play a significant role in the development of glaucoma and in particular, the most common form of glaucoma, primary open angle glaucoma (POAG).
In "Genetic Bases for Glaucoma," a focus is centered around POAG and the three genes, MYOC, OPTN, and WDR36 that have been linked with the disease to date. However, as Fuse mentions, it is important to recognize that these three genes are the only genes that have been identified as associated with the twenty different chromosomal locations, or loci, that correlate with POAG. Additionally, this article makes it known that although glaucoma has become quite common, only a few cases are caused by mutations in the three associated genes. While Fuse notes that some glaucoma mutations can have a Mendelian inheritance pattern in which mutations are passed from parents to offspring, he also briefly discusses that some complex disorders, including glaucoma, do not follow this type of inheritance pattern. Although it is beneficial that this variability in inheritance is acknowledged, the descriptions of studies used to detect non-Mendelian inheritance patterns seem to be lacking in the article.
Fuse recognizes that amidst the increasing "knowledge bank" of the genetic aspects of glaucoma, the understanding of mechanisms by which environmental factors play a role leaves much to be desired. Not only will taking into account gene-gene interactions, gene-environment interactions, and increasing the use of screening methods help with understanding the genetics of glaucoma, but it will help from a pharmacological standpoint and may advance glaucoma therapy.
As the prevalence of glaucoma continues to increase on a global scale each and every year, it is vital that individuals familiarize themselves with the origins of such a vision-threatening disease that often goes undetected as is done in the article "Genetic Bases for Glaucoma," a summary of the genetic facets of glaucoma. Nobuo Fuse, author of "Genetic Bases for Glaucoma," uses this article to reveal the complex genetic factors involved in the multi-factorial eye disease glaucoma. Fuse, an opthalmologist at Tohoku University Graduate School of Medicine in Japan, makes sure to place an appropriate emphasis on the environmental factors that, combined with the genetics factors, also play a significant role in the development of glaucoma and in particular, the most common form of glaucoma, primary open angle glaucoma (POAG).
In "Genetic Bases for Glaucoma," a focus is centered around POAG and the three genes, MYOC, OPTN, and WDR36 that have been linked with the disease to date. However, as Fuse mentions, it is important to recognize that these three genes are the only genes that have been identified as associated with the twenty different chromosomal locations, or loci, that correlate with POAG. Additionally, this article makes it known that although glaucoma has become quite common, only a few cases are caused by mutations in the three associated genes. While Fuse notes that some glaucoma mutations can have a Mendelian inheritance pattern in which mutations are passed from parents to offspring, he also briefly discusses that some complex disorders, including glaucoma, do not follow this type of inheritance pattern. Although it is beneficial that this variability in inheritance is acknowledged, the descriptions of studies used to detect non-Mendelian inheritance patterns seem to be lacking in the article.
Fuse recognizes that amidst the increasing "knowledge bank" of the genetic aspects of glaucoma, the understanding of mechanisms by which environmental factors play a role leaves much to be desired. Not only will taking into account gene-gene interactions, gene-environment interactions, and increasing the use of screening methods help with understanding the genetics of glaucoma, but it will help from a pharmacological standpoint and may advance glaucoma therapy.
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References:
1. Fuse, Nobuo. "Genetic Bases for Glaucoma." The Tohoku Journal of Experimental Medicine 221 (2010): 1-10. PubMed. Web. 22 Jan. 2011
http://www.jstage.jst.go.jp/article/tjem/221/1/1/_pdf
2. Rao, Kollu N., Srujana Nagireddy, and Subhabrata Chakrabarti. "Complex Genetic Mechanisms in Glaucoma: An Overview." Indian Journal of Opthamology 59.7 (2011): 31-42. PubMed. Web. 22 Jan. 2011.
http://www.ijo.in/article.asp?issn=0301-4738;year=2011;volume=59;issue=7;spage=31;epage=42;aulast=Rao
3. American Optometric Association. Answers To Your Questions About Glaucoma. St. Louis: American Optometric Association. Print.
4. http://www.forbes.com/2009/06/26/life-saving-devices-technology-personal-monitors_slide_7.html
5. http://www.youtube.com/watch?v=OJMEfGFbFMI
6. "MYOC - Myocilin, Trabecular Meshwork Inducible Glucocorticoid Response - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. 6 Feb. 2011. Web. 08 Feb. 2011. http://ghr.nlm.nih.gov/gene/MYOC
7. Saura, Maria, Montse Cabana, Carmen Ayuso, and Diana Valverde. "European Journal of Human Genetics - Mutations including the Promoter Region of Myocilin//TIGR Gene." Nature Publishing Group : Science Journals, Jobs, and Information. 13 Oct. 2004. Web. 08 Feb. 2011. http://www.nature.com/ejhg/journal/v13/n3/full/5201299a.html
8. Fingert, John H., Elise Heon, Jefferey M. Liebmann, Tetsuya Yamamoto, Jaime E. Craig, Julian Rait, Kazuhide Kawase, Sek-Tien Hoh, Yvonne M. Buys, Joanne Dickinson, Robin R. Hockey, Donna Williams-Lyn, Graham Trope, Yoshiaki Kitazawa, Robert Ritch, David A. Mackey, Wallace L.M. Alward, Val C. Sheffield, and Edwin M. Stoned. "Analysis of Myocilin Mutations in 1703 Glaucoma Patients From Five Different Populations — Hum Mol Genet." Oxford Journals | Life Sciences & Medicine | Human Molecular Genetics. 14 Mar. 1999. Web. 08 Feb. 2011. http://hmg.oxfordjournals.org/content/8/5/899.full
9. McMahon, C., Semina, E.V., Link, B.A. "Using zebrafish to study the complex genetics of glaucoma." Comparative Biochemistry and Physiology Part C: Toxicology and Parmacology. vol 138-3. July 2004. Web. 24 Feb 2011. http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6W89-4CDJG6X-1&_user=443835&_coverDate=07%2F31%2F2004&_rdoc=1&_fmt=high&_orig=search&_origin=search&_sort=d&_docanchor=&view=c&_acct=C000020958&_version=1&_urlVersion=0&_userid=443835&md5=525db1a96bf7be7620dabbcd34c426f9&search#toc2
10. Kubota, R., Noda, S., Wang, Y., Minoshima, S., Asakawa, S., Kudoh, J., Mashima, Y., Oguchi, Y., Shimizu, N. "A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping." Genomics. vol 41-3.1 May 1997, Pages 360-369 Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan. http://www.sciencedirect.com.ezproxy.library.wisc.edu/science?_ob=ArticleURL&_udi=B6WG1-45M8YTG-C5&_user=443835&_coverDate=05%2F01%2F1997&_rdoc=1&_fmt=high&_orig=gateway&_origin=gateway&_sort=d&_docanchor=&view=c&_acct=C000020958&_version=1&_urlVersion=0&_userid=443835&md5=1562ae0f98031b9d89c1c8377a859b1e&search
