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Keeping an Eye on Myocilin: A Complex Molecule Associated with Primary Open-Angle Glaucoma Susceptibility
Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (UNICAMP), Campinas-SP 13083-875, Brazil
Department of Ophthalmology, Faculty of Medical Sciences, University of Campinas (UNICAMP), Campinas-SP 13083-888, Brazil
Department of Chemistry and Nanobiotechnology, Fluorotronics, Inc., San Diego, CA 92081, USA
* Author to whom correspondence should be addressed.
Received: 16 June 2011; Accepted: 21 June 2011 / Published: 27 June 2011
Abstract: MYOC encodes a secretary glycoprotein of 504 amino acids named myocilin. MYOC is the first gene to be linked to juvenile open-angle glaucoma (JOAG) and some forms of adult-onset primary open-angle glaucoma (POAG). The gene was identified as an up-regulated molecule in cultured trabecular meshwork (TM) cells after treatment with dexamethasone and was originally referred to as trabecular meshwork-inducible glucocorticoid response (TIGR). Elevated intraocular pressure (IOP), due to decreased aqueous outflow, is the strongest known risk factor for POAG. Increasing evidence showed that the modulation of the wild-type (wt) myocilin protein expression is not causative of glaucoma while some misfolded and self-assembly aggregates of mutated myocilin may be associated with POAG in related or unrelated populations. The etiology of the disease remains unclear. Consequently, a better understanding of the molecular mechanisms underlyingPOAG is required to obtain early diagnosis, avoid potential disease progression, and develop new therapeutic strategies. In the present study, we review and discuss the most relevant studies regarding structural characterizations, expressions, molecular interactions, putative functions of MYOC gene and/or its corresponding protein in POAG etiology.
Keywords: glaucoma; blindness; myocilin; gene variants; protein folding; molecular aggregation
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Menaa, F.; Braghini, C.A.; Vasconcellos, J.P.C.D.; Menaa, B.; Costa, V.P.; Figueiredo, E.S.D.; Melo, M.B.D. Keeping an Eye on Myocilin: A Complex Molecule Associated with Primary Open-Angle Glaucoma Susceptibility. Molecules 2011, 16, 5402-5421.
Menaa F, Braghini CA, Vasconcellos JPCD, Menaa B, Costa VP, Figueiredo ESD, Melo MBD. Keeping an Eye on Myocilin: A Complex Molecule Associated with Primary Open-Angle Glaucoma Susceptibility. Molecules. 2011; 16(7):5402-5421.
Menaa, Farid; Braghini, Carolina Ayumi; Vasconcellos, Jose Paulo Cabral De; Menaa, Bouzid; Costa, Vital Paulino; Figueiredo, Eugênio Santana De; Melo, Monica Barbosa De. 2011. "Keeping an Eye on Myocilin: A Complex Molecule Associated with Primary Open-Angle Glaucoma Susceptibility." Molecules 16, no. 7: 5402-5421.