Zusammenfassung
Approximately 3 years ago, the first major (biochemical, molecular biologic, and biologic) insight into primary open-angle glaucoma was the finding that mutations in the myocilin (MYOC/TIGR) gene were related to certain forms of juvenile onset of this disease. Since then, a great deal of work has been done to determine the possible mechanisms by which MYOC/TIGR might cause not only juvenile but ...
Zusammenfassung
Approximately 3 years ago, the first major (biochemical, molecular biologic, and biologic) insight into primary open-angle glaucoma was the finding that mutations in the myocilin (MYOC/TIGR) gene were related to certain forms of juvenile onset of this disease. Since then, a great deal of work has been done to determine the possible mechanisms by which MYOC/TIGR might cause not only juvenile but also adult-onset primary open-angle glaucoma. To assess the current knowledge and those areas in which more research is necessary, a meeting of scientists was held by the Glaucoma Research Foundation of San Francisco, California in the spring of 2000. This meeting attempted to concentrate on the MYOC/TIGR protein rather than the genetics of this gene. Possible functions and roles of this protein intracellularly and extracellularly were critically examined and discussed. Normal transcriptional and translational events and the effect of mutations on these events were explored. The discussions yielded insight not only in those areas in which important information is known but also in vital areas in which little is currently understood. This review attempts to summarize the current knowledge regarding MYOC/TIGR and to elucidate the points that the people attending the meeting thought needed further study.
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