The microfibril hypothesis of glaucoma: implications for treatment of elevated intraocular pressure.

ABSTRACT: Microfibrils are macromolecular aggregates located in the extracellular matrix of both elastic and nonelastic tissues that have essential functions in formation of elastic fibers and control of signaling through the transforming growth factor beta (TGFβ) family of cytokines. Elevation of systemic TGFβ and chronic activation of TGFβ signal transduction are associated with diseases caused by mutations in microfibril-associated genes, including FBN1. A role for microfibrils in glaucoma is suggested by identification of risk alleles in LOXL1 for exfoliation glaucoma and mutations in LTBP2 for primary congenital glaucoma, both of which are microfibril-associated genes. Recent identification of a mutation in another microfibril-associated gene, ADAMTS10, in a dog model of primary open-angle glau

SUBMITTER: Kuchtey J 

PROVIDER: S-EPMC3991966 | biostudies-literature | 2014 Mar-Apr

REPOSITORIES: biostudies-literature