title: Keeping an eye on myocilin: a complex molecule associated with primary open-angle glaucoma susceptibility.
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 underlying POAG 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.
authors.affiliation: Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (UNICAMP), Campinas-SP 13083-875, Brazil. fmenaa@cbmeg.unicamp.br
authors.forename: Farid
authors.initials: F
authors.lastname: Menaa
authors.forename: Carolina Ayumi
authors.initials: CA
authors.lastname: Braghini
authors.forename: Jose Paulo Cabral De
authors.initials: JP
authors.lastname: Vasconcellos
authors.forename: Bouzid
authors.initials: B
authors.lastname: Menaa
authors.forename: Vital Paulino
authors.initials: VP
authors.lastname: Costa
authors.forename: Eugênio Santana De
authors.initials: ES
authors.lastname: Figueiredo
authors.forename: Monica Barbosa De
authors.initials: MB
authors.lastname: Melo
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D003598:Cytoskeletal Proteins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism*; D005136:Eye Proteins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism*; D005902:Glaucoma, Open-Angle / Q000235:genetics / Q000378:metabolism*; D006023:Glycoproteins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008969:Molecular Sequence Data; D017510:Protein Folding; D017386:Sequence Homology, Amino Acid; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin