ࡱ> q bbjbjt+t+ RAAQ]ZZZZZZZ$~~~~P ~ LF\\\ooo  $ Zokooo WZZ\\WWWoZ\Z\ ~~ZZZZo WW= h ZZ \ E~~^ GLC1A and Glaucoma Amanda Ortega April 2, 2002  Figure  SEQ Figure \* ARABIC 1 Picture of the flow of aqueous humor by the American Health Assistance Foundation. Introduction Glaucoma is a serious eye disorder that is caused by a mutation of the GLC1A gene located on chromosome 1. Unfortunately there is no cure for glaucoma and if left untreated it can lead to complete loss of vision. Most people do not know they have glaucoma and in time, it slowly steals their vision. The optic nerve can be treated and some vision may be spared if the disease is caught early. There are no early warnings that indicate glaucoma, which causes a large amount of people to go years without treatment. There are various forms of the disease but the two most common are primary open angle glaucoma (POAG) and juvenile open angle glaucoma (JOAG). POAG is autosomal recessive and it occurs more frequently. Both men and women are at risk for POAG although the disease occurs more regularly in men. Map and Inheritance  INCLUDEPICTURE "http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?dispmax=1&showndispmax=1&val=NT_029874.2&view=graph&save=asis&_from=949256&_to=949686&_sfrom=949256&_image=1&_hkey=3c85aab900000000000000f5" \* MERGEFORMATINET  Gene Structure and Product    Effects of Mutants and Variants On a molecular level POAG is still a mystery but genetically it is a heterogeneous disorder that is the product of an interaction between multiple genes and environmental influences. Mutations predominantly appear on exons one through three. The six primary mutations include Pro370Leu, Gly367Arg, Gln368Stop, Gly434Ser, Asn450Asp, and Arg470Cys. Interaction of these genes can lead to elevated intraocular pressure, optic nerve cupping, and vision loss. References Alward, W. Gene Discovery Opens New Era in Glaucoma. Ophthalmology Times. 1997; 22 (13): 102. [AHAF] American Health Assistance Foundation. 1999. Flow of Aqueous Humor. . Accessed 2002 April 1. Belmouden, A., Adam, M., Dupont De Dinechin, S. Brezin, A., Rigault, P., Chumakov, I., Bach, J., and Garchon, H. Recombinational and Physical Mapping of the Locus for Primary Open-Angle Glaucoma (GLC1A) on Chromosome 1q23-q25. Genomics. 1997; 39: 348-358. Guttman, C., Alward, W., et al. Studies Link GLC1A Gene Mutation to Adult Onset POAG. Ophthalmology Times. 1998; 23 (4): 132. Kubota, A., Kudoh, J., Mashima, Y., Asakawa, S., Minoshima, S., Fielding, J., Oguchi, Y., and Shimizu, N. Genomic Organization of the Human Myocilin Gene (MYOC) Responsible for Primary Open Angle Glaucoma (GLC1A). Biochemical and Biophysical Research Communications 1998; 242: 396-400. [NCBI] National Center for Biotechnology Information. 2002 Jan. 23. Genes and Disease. < HYPERLINK "http://www.ncbi.nlm.nih.gov/disease/Glaucoma.html" http://www.ncbi.nlm.nih.gov/disease/Glaucoma.html>. Accessed 2002 Mar. 1. Stone, E., Fingert, J., Alward, W., Nguyen, T., Polansky, J., Sunden, S., Nishimura, D., Clark, A., Nystuen, A., Nichols, B., and et al. Identification of a Gene That Causes Primary Open Angle Glaucoma. Science. 1997; 275. Swiss Prot. 2001 Oct. NiceProt View of SWISS-PROT: Q99972. < HYPERLINK "http://www.expasy.org/cgi-bin/niceprot.pl/printable?ac=Q99972" http://www.expasy.org/cgi-bin/niceprot.pl/printable?ac=Q99972>. Accessed 2002 Mar. 1. Takahashi, H., Noda, S., Imamura, Y., Nagasawa, A., Kubota, R., Mashima, Y., Kudoh, J., Oguchi, Y., and Shimizu, N. Mouse Myocilin (Myoc) Gene Expression in Ocular Tissues. Biochemical and Biophysical Research Communications 1998; 248: 104-109. 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