Myocilin misfolding and glaucoma: A 20-year update

Mustn1 is a smooth muscle cell-secreted microprotein that modulates skeletal muscle extracellular matrix composition

“…For example, genes contributing to the GO term “collagen binding” such as collagens Col6a1 and Col6a2 [ 52 ] and procollagen C-endopeptidase enhancer Pcolce (its paralog Pcolce2 also figuring on the list) [ 53 ], have been linked to myopathies, while Tgfbi (transforming growth factor beta induced) has been linked to corneal dystrophies [ 54 ]. Contributors to the GO term “negative regulation of cell adhesion” on the other hand included matrix metalloproteinases Mmp2 and Mmp14 which can remodel the extracellular matrix, Myoc (myocilin) which encodes a secreted protein linked to glaucoma [ 55 ] and Anxa1 (annexin A1), a mediator of glucocorticoid action [ 56 ]. Lastly, contributing to the GO term “regulation of vasculature development” are the anti-angiogenic serine (or cysteine) peptidase inhibitor, clade F, member 1 ( Serpinf1) [ 57 ] and elastin microfibril interfacer 2 ( Emilin2) , an extracellular matrix component conferring elasticity to blood vessels [ 58 ].…”

Glaucoma Animal Models beyond Chronic IOP Increase

“…Myocilin is also a protein that became known in connection with research regarding glaucoma. Approximately 5% of primary open-angle glaucoma cases in patients result from a mutation in the gene for myocilin, and it is expressed on higher levels in the trabecular meshwork [57,58]. Here, it has to be mentioned that this mutation alters the IOP and therefore does not serve as a specific marker for IOP-independent glaucoma pathology [59].…”