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Abstract #10303 Published in IGR 6-1
Current perspectives on the TIGR/MYOC gene (myocilin) and glaucoma
Polansky JROphthalmology Clinics of North America 2003; 16: 515-527
Over the past several years, many groups worldwide have confirmed the presence of probable disease-causing mutations in the coding region of the (TIGR/MYOC) gene associated with glaucoma. Disease-associated point mutations are often found in the third exon of TIGR/MYOC and are predicted to exert a substantial influence on protein structure. Although there has been speculation as to the mechanisms involved in the pathogenic effects for a number of the mutations, the processes leading to the development of glaucoma involving TIGR/MYOC remain to be elucidated. In addition to ongoing mutation studies, efforts are underway to follow up on TIGR/MYOC gene regulation studies in human trabecular meshwork cells and other possibly relevant cell types. Potentially by altering gene regulation, a major variant (-1000 G/C), present in 15-20% of individuals, appears to be associated with a more rapid progression of glaucomatous disease. This article addresses several of these areas of research on the TIGR/MYOC gene and glaucoma, briefly presenting currently available evidence and considering or updating information presented previously.
Dr. J.R. Polansky, Department of Ophthalmology, University of California Medical Center, University of California, San Francisco School of Medicine, 10 Koret Way, San Francisco, CA 94143-0730, USA. onelexi@aol.com
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
